The Center for Advanced Individual Medicine; Personalized Medicine Centers at CTCA opened their doors May 2014. The Personalized Medicine Center is a comprehensive resource center available to both patients and their caregivers. The Personalized Medicine Center offers clinical coordination allowing a patient's oncologist to apply the latest advances in genomic testing, which may reveal targeted treatment options that may not have been considered previously.
At Cancer Treatment Centers of America at Midwestern, genetic counseling is available to educate and inform patients about genetic (hereditary) testing options and results. A referral order from physician is necessary in order to consult with one of the counselors, however the Center for Advanced Individual Medicine is a resource center available without an appointment to patients, caregivers, and stakeholders to receive basic genetic and genomic testing information.
A very special thank you to Kelly Fay for being a resource for this month's topic.
Kelly Fay, BSN, RN serves as the Personalized Medicine Center Site Director. An Oncology Nurse Care Manager since 1994, Kelly joined MRMC in 2001. An educator and change agent, Kelly says that she looks forward to “changing the future of oncology patient care treatments and outcomes through a truly individualized and innovative approach to healthcare.” Please enjoy reading Genetic Testing for Hereditary Cancer Syndromes. The following link, Center for Advanced Individual Medicine is from the CTCA website and will let you see what our patients are viewing.
Kelly Fay, BSN, RN serves as the Personalized Medicine Center Site Director. An Oncology Nurse Care Manager since 1994, Kelly joined MRMC in 2001. An educator and change agent, Kelly says that she looks forward to “changing the future of oncology patient care treatments and outcomes through a truly individualized and innovative approach to healthcare.” Please enjoy reading Genetic Testing for Hereditary Cancer Syndromes. The following link, Center for Advanced Individual Medicine is from the CTCA website and will let you see what our patients are viewing.
Questions
- What is the difference between genetic and genomic testing?
- What is the importance of a psychological assessment as part of the cancer risk assessment?
Discussion Question
Please send your answers to melissa.luebbe@ctca-hope.com, by popular demand they will not be posted on a share site at the end of the month! Answers must be a minimum of 2-3 complete sentences, please put your full name and contact information in the heading. For full credit you need to respond to the discussion questions on the blog, please include your name when blogging, if your name is not already included in your email address.
Please note that the American Holistic Nursing Association website has been included on the right hand side under Links You Might Enjoy - Thanks to Sharon Oliver, RN, OCN, CHPN, HN-BC for sharing this link with us!
Genetic testing can be empowering and terrifying at the same time. It's not for everyone. If a pt has positive genetic result it can put pressure on the pt to decide whether or not to educate their "at risk" family members. This conversation can cause fear, anger, anxiety and strain relationships.
ReplyDeleteI agree Brittney, this can add stress to an already difficult situation.
DeleteI like your answer Brittney. If it were me and I received valuable information, I'd feel obligated to share it, but not everyone is able to accept scarey information and it could rip a family apart.
DeleteGenetic testing can be a useful tool however can have consequences of increased anxiety and guilt added to an already stressfull situation at present, but then also down the road in regards to the impact on the children already born and to future generations.
ReplyDeleteI agree with Julie that genetic testing can be useful for the family members and future generations.
DeleteThere is also the possibility of anger between family members about a positive test result.
ReplyDeleteGenetic testing may be terrifying for both the patient and family members. The patient and family members should get together and discuss the pro's and con's for genetic testing. Genetic testing could prove to be benificial for both the patient and family members. If the test comes back positieve it would help both the patient's family members to know in their life time that there could be a chance that they could also develope cancer. So testing for cancer could be done earlier to catch cancer in a early stage or prevent it all together.
ReplyDeleteI agree with a family meeting to discuss genetic testing before it is actually performed.
DeleteI love the idea of having a family discussion about the genetic testing prior to having it done. That way at least the patient has an idea about who supports them and who doesn't. This may actually help the patient in revealing the results, as to not upset key individuals they may not want to know.
DeleteI agree with Jennifer's idea of having a family meeting to discuss the positive and negative outcome of the genetic testing. After all this is a choice that will affect all involve in either a positive or negative way depending on how you look at it.
DeleteI agree. Family concerns can be emotional, social, or financial concerns depending on the results of genetic testing. Family members finding out information may experience anger or depression. Parents may feel guilty for passing on a bad gene. They may also fear the impact of results on being able to carry insurance. Individual family members may choose not to have offspring or may exclude family members from acting as beneficiaries or power of attorneys out of fear. Finding out results and having genetic testing can certainly increase family tensions. Group or family genetic counseling should be recommended to all patients seeking genetic testing.
DeleteI agree. So many emotions can occur with the results of genetic testing. Leading to decision making that may or may not be appropriate.
DeleteI think it's a good idea to have family meeting to discuss concerns and see the reactions of the different family members. There will always be tension, anger, guilt, uncertainty to name some of the emotions. I'm glad CTCA had opened their Center for Advanced Individual Medicine to offer the latest advances in genomic testing to help our patients and their families.
DeleteGenetic testing is a wonderful tool. Not everyone wants to know such scarey, yet valuable information. If it has an infuence on having more children or any at all, that could cause significant problems between couples and families.
ReplyDeleteIt is definately important a patient have a discussion with their spouse/children/etc. before they start the genetic testing process and include their loved ones during the process to help avoid conflict and problems.
DeleteI think this is where very thorough genetic counseling is so important. I think this counseling should include other family members as well, if the patient agrees to it. It may help with the possible impact it may have on the family dynamics if there is a positive result. As beneficial as this information is, I agree that this can cause a major impact on a marriage or families especially if is related to having children.
DeleteI agree with you Tina. Sometimes children can be a deal breaker for relationships. When a patient has genetic testing, knowing that the gene could be passed to a child could definatly be a difficult conversation.
DeleteI can imagine how this topic could be controversial within families. Many people want to know their risks of getting certain diseases or the risk of passing it on to their children, while others do not wish to know this information. Having a family meeting to discuss genetic testing before it is actually perfomed may be beneficial for families.
ReplyDeleteI agree, as well as many might want to know their own risks but not burdon their family with the result that the family may as well be at higher risk. A family discussion would be a good idea because it is not only impacting the patient but the family as a whole.
DeleteFinding out ahead of time how others in the family feel should not preclude someone from getting genetic testing, but they should agree on not sharing results or that testing was done with a family member who does not want negative news.
DeleteConcerns with genetic testing revolve around fear or the unknown, which is made known. It necessarily reveals topics such as "who is a carrier," "odds of developing X," etc. This frightens people who choose not to know, but who want to support someone to whom they are reated, who does. This is especially scary if one is pregnant, plans to become pregnant or already has children with an oncology patient. Offering services while be sensitive to those about whom results refer is a very sensitive area.
ReplyDelete--Theresa Minniear, Clinical Research, x1863
Theresa, I enjoyed your post and agree that fear for a patient being a carrier could be overwhelming. I have met patients family members who do not want to know they just want life to play out as it would. We have to respect these decisions and let them make these decisions for whatever reasons they chose. Great post!
DeleteI agree with everyone but especially with tTheresa. kNowledge can be. A great thing and of benefit but frightening and threatening as well. It can not only the individual involved but family and other relationships as well..GEnetic testing can be very important and have a significant role but one has to be able to accept all the implications and results as.well Nancy C
DeleteWell stated, Theresa. I agree that the fear of the unknown can be paralyzing, but having the knowledge and a supporting family can be empowering to make the decisions that are hard
DeleteI agree with you Theresa, sometimes the fear of the unknown becomes a problem because nobody wants to to know anything, but on the other hand wouldn't you want to know so it could be prevented at least???
DeleteA patient may be fearful of a negative result and revealing the findings to family who may be impacted and are now burdened with the implication that they too may be at risk. There may be a sense of regret for even having gone through with the testing and anger for having this new burden adding to lifes difficulties.
ReplyDeleteI would say fear also. According to results and then making future decisions and putting family in the predicament of knowing the what if's when maybe they would have just chosen to not know at all.
DeleteI agree. Fear of what they may find out can make any future decisions difficult and the regret may come along with knowing the results. People sometimes prefer to just live their life and deal with the bumps on the road as they come along.
DeleteI think the answer for this patient would be education of what genetic counseling is about, what it will reveal, and what she can do with the information. Her concerns could be fear of having a hereditary cancer that she may have passed on to her children. This could affect her children in decisions of having their own kids or not. But on the other hand it could allow her children comfort that her cancer is random and that they are not predisposed to possible cancers themselves. Another positive reason to get the testing done would be to help determine a treatment that could be a potential cure for her cancer.
ReplyDeleteSome people are more likely to want to know what the future holds than others. Concerns for these family members could be that they would rather not know what's in their future, if they do find out they are more likely to have cancer will it change the person they are or will others look at them the same way anymore. If they were planning on having children but have not yet, will they still consider children knowing they have a higher risk for cancer…? The family dynamic might change because people might choose not to have children and continue to carry those genes to future generations.
ReplyDeleteThis is a great point Lauren. I think genetic testing can definately alter some of those big life decisions which is why we need to make sure our patients have strong support systems through the genetic testing process. If they don't feel they have adequate family support we can offer our support services here (eg. Mind/Body, Chaplain, etc.)
DeleteI agree with the previous comments regarding the usefulness of genetic testing for at risk families and the effects on the futures of their children. I have seen anger, fear, and worry over the counseling and testing issues. I worked as the genetic program nurse coordinator at another hospital. I witnessed anxiety and guilt as sisters tested postive with the BRCA1 or 2 gene but another sister refused to discuss testing, refused counseling, and denied the potential health concerns of the family. This caused great stress within the family dynamics. Testing can open a "can of worms" which can be managed through professional genetic counseling. Benefits of tesing include assistance in determining to have prophylactic bilateral mastectomy vs a lumpectomy, or oophorectomy after the last child is born to reduce disease risk. In the past, I was seen genetic testing ordered as if it were a CBC or cholesterol test, without the appropriate couseling and support. Genetic couseling should always precede testing. We are fortunate to have a genetic counseling program on site at MRMC, as it is a necessary resource in the comprehensive care of the oncology patient.
ReplyDeleteDonna, that is so interesting that you were in that role at another hospital. I completely agree with you about the importance of genetic counseling and education prior to the testing. These results can have major implications for not only the patient but their entire family. To perform such tests without the appropriate education and guidance is definitely doing more harm than good, in my opinion.
DeleteI agree with you Donna. We are very fortunate to have a genetic counseling program here. No one should have genetic testing without counseling first. The results have multiple affects on family members, both negative and positive.
DeleteWow Donna, you never cease to amaze me with the vast variety of experience you have including coordinating genetic counceling. It's so true that genetic counseling is extemely important. I was especially surprised by the home testing aspect which has a limited scope of testing that could give patients a false sense of security as well. The home testing should have warnings on the labels.
DeleteI agree with Donna.Patient and family should be given proper genetic counseling and education before proceeding with genetic testing.Results my have very,both negative and positive effect on whole family.
DeleteI think it is important to discuss genetic testing with families prior to getting it done. Since siblings/children/etc. may share the same risk factors (since they have the some of the same genes) for certain diseases/illnesses, the patient should discuss with family if they want to be disclosed to what they find out. Some family members may not want to have genetic testing done or know what conditions they are predisposed to. The patient having the testing done needs to consider the views and wishes of their family members and know who they would be able to disclose with findings. I also think it is important to have family members included (if they are willing) because this can be a very emotional time for the patient and they need to have a strong support system.
ReplyDeleteI agree with Amy when she talks about how imporatnt it is to have family members included if only for the emotional aspect of the genetic testing. Support is so vital during this time.
DeleteTheir concerns could be how the test results affect them. They may feel that the patient should not be doing the testing at all. The outcomes from the testing could change the communication in the family. The way in which a family communicates in general, and the candor in which they discuss their genetic risks.
ReplyDeleteGenetic counseling and testing go hand in hand but the counseling should be the first step. Speaking as a mother of 2 children who " mysterously" had cancer at a young age, the results of the genetic counseling and testing was priceless. We found that both of our childern had environmental factors that caused the cancer ( tainted drinking water from Camp Legune, North Carolina) . Had we not pursued this, the rest of the family could have always wondered if the cancer was genetic. Open, frank discussions and clear lines of communication are the keys .
ReplyDeleteJudy, I am sorry about your children and their cancer. I completely agree with you, in this situation, the genetic testing/counseling was priceless. Plus it gave indescribable reassurance to the rest of the family.
DeleteI think it is a personal decision to have genetic testing done. There are so many variables and factors that play into this decision. What if it is positive, then will I tell my family & children? How will they react? What decisions, good or bad, will they make? If it is negative, then where did the cancer come from? Why did this happen to me? Could I have prevented it? As a nurse, it is very important to not instill any form of judgement on these types of difficult decisions that our patients go through. We need to support them and educate them in whatever the decision may be.
ReplyDeleteI like your post, Sheila! I think it is important for a nurse to have the ability to empathize with the patient, without judgement and regardless of what decision she might make herself. These are very real questions a patient might have about dealing with the results of testing. Genetic testing is not for everyone and no patient should ever feel pressured to have it done.
DeleteI think it is very important to have clear communication with the family for the patient's health and the family. It is also important to have teaching performed with all of the family so there is no blame and everything is understood. Some family member may want to know and some may not. It is each individual's right to decide what they want to know and everyone should respect that decision.
ReplyDeleteEducation and genetic counseling are key and must be completed with the patient, caregiver (and hopefully family members) prior to determining if testing is appropriate for the individual. Although the results can provide important information regarding treatment and prognosis, it could be difficult for the patient/family to learn if it is going to be a more difficult treatment with less chance for cure. It can also instill feelings of anger or guilt if the patient is found to be the carrier of a mutation passed on to their children or questionable future children. Despite its medical value, there can be real harm that can come of the results if the information is not preceeded by the appropriate counseling. It is also extremely important that the results be discussed with the patient/family by a qualified physician and the family be given the opportunity and support to ask their questions regarding the results without judgement.
ReplyDeleteLearning your genetic status may prompt fears that your child or children also have inherited the gene mutation. If you learn that you are a carrier of the breast cancer gene, this can lead to more questions and anxiety about when is the best time to discuss the results with your children.
ReplyDeleteThis comment has been removed by the author.
ReplyDeleteSome of your relatives may not want to know there's been a gene mutation detected within the family. But it may be hard to keep the truth from close family members if you're planning proactive measures, such as preventive surgery. Give thought beforehand to how — or even if — you'll share your test results with family members.
ReplyDeleteAccording to the article, "genetic tests can reveal information not only about the person being tested but also about that person’s relatives. The presence of a harmful genetic mutation in one family member makes it more likely that other blood relatives may also carry the same mutation. Family relationships can be affected when one member of a family discloses genetic test results that may have implications for other family members. Family members may have very different opinions about how useful it is to learn whether they do or do not have a disease-related genetic mutation. Health discussions may get complicated when some family members know their genetic status while other family members do not choose to know their test results."
ReplyDeleteI once read an article about an 18year old model that underwent a preventative double mastectomy because her mother had just passed from a genetically positive breast cancer.
Genetic counseling should be done by all family members who may or may not want to know the information. Learning you are predisposed to a certain cancer can have a lasting psychological impact on younger people. I personally know some that live life recklessly because they go through life thinking, "I'm going to die of cancer anyways!"
I think you are right that family members should be included in genetic counseling prior to testing. If this could be facilitated, it could be of great benefit the patient. It would take the pressure off of them to share the information and spare them from some uncomfortable family interactions in the future. Family can be an invaluable support system when facing the possibility of a serious illness and those relationships should be protected and encouraged by health care providers.
DeleteI agree this can be a very hard situation. Using your example of genetically positive breast cancer, this model decided to have a double mastectomy. Let's say she wanted to share this information with her younger sister but her younger sister decided she did not want to know the results of the genetic tests. Although this younger sister decided not "to know" and continue on her life as is, i'm pretty sure she would figure out the results anyways when she sees her older sister going ahead with an elective mastectomy. This would give her the answers to the testing, although she did not want to know. Such a hard decision that each family would have to deal with in their own way I suppose.
DeleteThis is very sad. Hopefully these young people will have a change of heart as time goes by. I don't blame the model for making a very tough choice. Each day is a gift and life is very precious. No one knows how or when they will die.
ReplyDeleteIt is a patient's right to gain any knowledge they can to help fight their disease. It is also the family's individual right to know or not know. Although, a patient and the family go through counseling you can't predict how they will react or treat each other. It is not anyone's fault what genetic makeup you are born with. You can't choose whether you will be suseptible to diabetes, a heart attack, cancer, or even being born with a large nose or red hair. It all comes down to how you approach life.
ReplyDeleteThe patient’s concerns are very real regarding the possible affect the genetic testing results may have on the family. There can be many different reactions depending on the individuals involved. Some people are thankful to know while others may be angry and distance themselves from the person who has been tested. People may decide not to pursue having children or more children as originally planned. When it comes to estate and inheritance planning certain family members could be excluded from the inheritance because of their life expectancy and or perceived trauma to the family due to the genetic testing results. A family meeting/ discussion would be helpful prior to the genetic testing if possible to prevent problems.
ReplyDeleteHi Marjory,
DeleteI think you bring up a lot of valid points regarding concerns of genetic testing. I agree there may be a variety of feelings from family members and that each patient situation will be unique. I love your idea of a family meeting beforehand possibly with the nurse present so she could act as an advocate for the patient to help her explain her wishes to family members and help explain why the testing is important to her.
Specifically for the discussion scenario, I would be interested to learn why the patient feels nervous about the family’s reaction to her decision to test. Is she worried about backlash? Has her family been supportive of her treatment so far?
ReplyDeleteThe only potential family concern I see would be if her children or family members would not wish to know the results. However, as a science-minded person it is difficult for me to understand why someone would not want this information. Especially as the caregiver for our “patient” my responsibility is to act as an advocate for this person and make sure she gets what she wants. While the fear that is affecting the family members is a valid sentiment, I don’t believe fear should stop us from pursuing knowledge. Although it can be difficult to face potential future repercussions of difficult genetic results, this knowledge could only help our patient and her family to have options of how to proceed with their lives and their cares moving forward. I feel the CTCA embodies the idea that knowledge is power and this testing would be providing the patient with so much knowledge. This testing can empower our patients to take charge of their own lives.
I would like to know why specifically she is concerned about her family's reaction. Has something been said to her in the past or maybe just some edication needs to be done. I understand that not all people may want to know if there is a genetic link in their family but ultimately it's the patient's choice and it is up to her if she wants to share that information. If there is a strong genetic link to a certain type of cancer one may choose not to have children for the fear of passing this on. From my personal experience my sister's first child passed away from a genetic disease when she was 16 months old and every child after would have a 1/4 chance of being born with the disease as well. There is no cure for it and she had to consider other options before having more children. Knowing this information can very much impact how someone chooses to do family planning. I peronsally find it empowering to have this kind of information but it is easy for me to say as a clinican as I feel we understand it better than some, for some people it is just scary.
ReplyDeleteAndrea- I agree with you, I also find it empowering and personally would probably chose to the genetic testing. However, i can see how it may be difficult for children of our patients to find out if their parent is positive. It is probably very scary and then a decision will have to be made if they want to be tested as well. That is why I think it is important to make sure we have adequate support servies available, mind/body, psych, Med Onc, etc.
DeleteGenetic testing is the best tools that's ever invented. Giving you a chance to know your risk of getting cancer. Especially if one of your family has it. Although it's a scary thing to do but Early detection is a cure to some diseases.
ReplyDeletewith everything else in life,there's always pros and cons;advantages and disadvantages;two sides to a coin.If my patient wants genetic testing done--it is a patient right to have it done but she also has a responsibility to her family to make it known to them as it directly/indirectly affects her family members.
ReplyDeleteUltimately,extensive education and support from knowledgeable professionals are needed in order for the family dynamics to remain intact and family decison making to be supported.
Genetic testing can be a scary thing for a patient. Frequently, the patients that pursue genetic testing come from families that have been seriously affected by illness. It is quite possible they have watched someone very close to them suffer, perhaps even die from the disease. Finding out they are at an elevated risk for developing the disease themselves could cause great anxiety and even depression. Their decision to start a family may be affected when they learn their level of risk. Should they test positive, they may also feel obligated to educate their at-risk family members who may or may not want that information. It would be important to learn the patient's history, discuss their expectations for testing and assess their readiness to hear and cope with their results.
ReplyDeleteI agree with Meg , it is a stressful and scary time to have genetic testing and what more if you test positive , but if you know what are your risk youre better prepared and i think you be able to cope better, but i know you can never be ready with any thing like this
DeleteThe choice to pursue genetic testing is difficult one,but could be very helpful. For the patient it could be very devastating to tell there family members if the testing came back positive. They may be grateful for the information or upset. They also may steer family members away from having children, knowing they could possibly pass this on to them. As for the patient I would encourage them to not hold information in like this, but empower them to be able to tell there family members as if she did not tell her other family members and they were to have a family, she may carry guilt if somthing was passed on. But no matter what there decision was I would support them, and try to guide them through.
ReplyDeleteLauren brings up several great points. If faced with genetic testing myself, I do not know if I would do it. I cannot say either way until I was faced with that situation. For myself personally, I believe that even though there are strong family histories for one disease or another, it doesn't mean that everyone will be genetically disposed to the disease. I took care of a patient with no family history of anyone carrying the BRCA 1 gene, however, she has it. I feel that genetic testing could bring upon unneccesary fear in a lot of people. The Bible says, "For God has not given us the spirit of fear, but of power,and of love, and a sound mind" 2nd Timothy 1:17. For me, I put my life and trust in God's hands everyday. Everyday He gives me is a gift. It is up to me to take care of my body with what I eat, drink, exercise, etc. I struggle with this. If placed in the situation, I would probably talk to my pastor for support to see how this lines up with what the Bible teaches us.
DeleteGenetic testing can be useful and stressful at the same time. Useful in a way that if you test positive , you will know that you have increased risk of developing cancer in the future but you can take steps to lower the the risk of developing cancer by changing personal behavior like quitting smoking, more exercise and eating healthy diet . It is stressful because it affects everybody in the family . It is very important that the result will be discussed with the family by a a qualified physician who can better explain and give them all the information that they need.
ReplyDeleteIf genetic testing is positive for a patient, a family member’s risks of carrying the same mutation increase. Each family member will be affected by the results of the testing and will respond differently and act differently based on decision making. Some concerns include patient or family member preference of not wanting to know the test results, type of treatment, prophylactic treatment, and chances of passing the gene mutation to their children. The present or even absence of genetic testing can cause anxiety and depression and impaired relationships between patients and their family members. A psychological assessment is imperative to initiate a plan of care.
ReplyDeleteGenetic counseling helps to assess and develop a plan of care for patients at risk for hereditary cancer syndromes. Nurse education can be implemented to our patient’s such as having genetic testing done at a younger age, taking certain medications such as Herceptin to treat HER2 positive type breast cancers, or discuss diet modifications for high risk patients with Lynch syndrome. Nurses can provide many resources to patients and caregivers for preventive measures and screening for optimal outcomes.
I agree with you in regards of genetic results causing anxiety and even depression regardless of the results being positive or negative. Especially with the younger population that we see who are already having a tough life dealing with the cancer diagnoses. At such a young age, their goal is getting over this "hump" in life and moving on with a normal life. The last thing on their mind is, is this disease genetic? So, this is when support is more important.
DeleteI believe that this patient has a valid concern for telling her family about her decision to get the genetic testing. This testing can have positive and negative outcomes. If I had cancer and received the testing resulting in the fact that my children could quite possibly inherit it, I would feel awful. On a positive note, this testing gives a chance for early detection for these family members. The results will make them more aware therefore they will pay closer attention to their bodies and medical well visits.
ReplyDeleteLindsey,
DeleteI agree with you that the results of a genetic test can be both a benefit and a risk, and it is all based on the reasoning for performing the genetic testing. If it is something that is being done for education and prevention; then that person is most likely educated on certain possibilities that may be identified in the test and are more psychologically prepared for a negative result. On the other hand, those that are being tested based on current disease processes or risk behaviors may not see the benefit and may focus on the negative outcomes. This in turn can lead to other risk raking behaviors; based on their ability to cope. Personally, I struggle with the idea of me getting genetic testing. Yes, I know that it will change the dynamics of my life, how I live and the way that my other family members view their life and health. This change can help save a life; yet, it can also identify certain things that could take away from my quality of life. I commend those that can take the steps to identify a health concern before it manifest; but then again this is where the psychological assessment plays an important role. Thank you for sharing your insight.
Genetic testing can be a “Catch 22.” While one may feel that it is important to learn specifics of their genetic make-up, what should you do with this information once it is received? This is a very personal decision that can be very difficult. What if something that you learn is very disheartening and you feel you need to take action in order to prevent something worse from happening in the future? It cannot be easy to make a decision like that. One case of this that was very popular in the media received much scrutiny for a very individual decision. This could be true with family members as well. If one were to share this information with their family, what would their opinions be? Not everyone is ever going to agree and this could cause high levels of stress on the individual who needs to make a decision and tension between them and their family members.
ReplyDeleteKristen,
DeleteI absolutely agree, as you will notice that my post was very similar to yours. The "catch 22" does make this process difficult but as a nurse, parent, and child I think it's important to know what you are up against, even though it may be painful. There are so many ways that early detection can increase one's chances of surviving cancer and with this testing it can certainly aid in this early detection.
The family members' concerns could be based from fear of the unknown. Genetic testing can be a great thing as it can help patient's and their families to be more proactive about their healthcare/screening (ex: BRCA positive family members getting mammograms early). Genetic testing can also be very scary for people, especially since there are some people who just don't want to know. I can see how knowing you carry a specific mutation that can lead to higher prevalence of pancreatic or colon or breast cancer could be incredibly terrifying. I think it is important to have support for these patients (genetic counselors, MDs, and mind/body or psych) before and after testing to help process what is happening and where to go from there.
ReplyDeleteFamily dynamics could change in many ways, especially if some members want to know and others do not. Again, I think this is where external support can be beneficial in helping to guide and support those that want to know while honoring the desires of those who do not and working on the relationships of those groups throughout the entire process. It can be tough if everyone is not on the same page, but each patient/family member is able to make their own decisions, it is just our responsiblity to make sure they are informed decisions and that support is available regardless.
I agree with Kristi , that family dynamics could change in many ways , and this is where external support could be very benificial in helping to guide and support those that want to know while honoring the desires of those who do not. Therefore family members could be in one page when it comes to each others opinions.
DeleteI feel that patients who are concerned about their family’s reaction to genetic testing may be because of guilt. Somehow if they test positive for a mutation, they may feel that they have put their family members at risk for cancer. They want to know how they could have prevented cancer. How do they tell their family members? Should I have a family? Who will be there to support their loved ones when they are told that they are at risk, will their loved ones blame them? And will they get tested to find out if they have the mutation or ignore the news? They also have to deal with what if their employer or future employer find out. Will they keep their jobs, will they get that job? There comes a great responsibility with knowing your risk and having the recommended follow up testing and monitoring but I feel that there is just a great of a risk if you don't know. I feel education is the key and the better educated they are the best decision they can make. I sympathize with the position they are in and try to refer them to resources to help them with their decisions.
ReplyDeletePatricia Adams RN, Care Management
I found Kari R's comments very interesting on the 18 year old having mastectomies and young people having reckless behavior as they expect imminent death from cancer. Genetic couseling with the appropriate statistics are crucial to guide young people towards the better decisions and healthy lifestyle choices. Margie stated an interesting comment regarding adults not having children due fears of passing on a mutated gene. Genetic counseling is so important and we nurses should identify patients who feel tortured by their genomes and direct them to genetic counseling consultations.
DeleteWell said patricia. There is a great deal to consider when they are being presented with the question of doing genetic testing. Its stressful to not only find out the results for them but to also have to worry about how their families might react to the news.
DeleteI agree with Donna.Patient and family should be given proper genetic counseling and education before proceeding with genetic testing.Results my have very,both negative and positive effect on whole family.
DeleteThis topic would be very controversal and difficult for families to be faced with. Their concerns can be fear based. Education is the key with genetic counseling we can help the patient make an informed decision. Family members need to be included in the couseling if they choose. Letting them know the positive and negative aspects of the genetic testing. Then let the individual decide if they would want to know the results. In the end like most decisions it is about choice.
ReplyDeleteThe patient should sit down with her/his family and discuss the pros and cons of the genetic testing. Although is a fearful subject it may be something to consider for it may help the family with early detection. But in the end is a hard decision to make and a choice that others will have to face and deal with.
ReplyDeleteFamily relationships can be affected when one member of the family discloses genetic test results that may have implications for other family members. They may have different opinions about how useful it is to learn whether they do or do not have a disease-related genetic mutation. This is where the genetic professionals can help family members better understand the complicated choices they may face.
ReplyDeleteWhen dealing with topics that we are not well educated on, people can tend to approach them with apprehension and fear of the unknown. On the other hand, when exploring issues of health and wellness others may be comfortable with not knowing; and the idea of identifying a risk can lead to other problems that the individual or group are not ready to face. The results of genetic testing can affect the entire structure of a family based on what they value. Whereas, if someone is from a culture that values the birth of male heirs; then the identity of a mutation that causes a person to not conceive a male or birth one with a defect, disorder or disease would change how they are viewed in that family. This can change whether or not the patient chooses to plan a family, how family members will view them in regards to inheritance and their ability to contribute to the family legacy and even how their partner treats or views them.
ReplyDeleteI think we are all in agreement that it is not an easy decision to make. I'm very thankful that there are genetic counselors available, and I am glad it is a choice, but beyond that it is as individual as the patients we treat. We continue to inform and support no matter what decision they make or do not make. I come from a very big family and I have children and I don't know for sure what choice I would make.
DeleteI think the main concern would be fear. Fear of the unknown, fear of what their family will think, fear of their results for children or future children. The outcomes could affect individuals in a positive way by making lifestyle changes for prevention. Or could be more negative in decisions to not start a family for younger couples.
ReplyDeleteI agree with you Michelle, fear is the biggest driving factor in decision making in regards to genetic testing!
DeleteIt is important for this patient to get the genetic counseling and education on how to best deal with family member’s reactions and how to deal with varying results of the testing. It is important to ask the patient if she can identify her concerns first and then possibly encourage her to talk it over with her family. The patient’s families concerns could be about the technical accuracy of testing or the medical implications of a positive or negative test result. It may be that it that the results are not informative enough. The concerns could be due to the psychological impact to a family member, their insurance or the insurance of future family members and the risk of knowing the patient could be passing on a genetic mutation. Family dynamics could change, children or future children may be decided based on this information. It is a patient’s choice to choose this testing based on sound education and getting their questions answered so they feel empowered to make the right decisions for themselves.
ReplyDeleteGreat point Terry. What are the patients concerns with regards to the family's reactions. What we migh tbe thinking what is a concern to us might not at all be to her.
DeleteI am glad that the patient is recognizing and addressing the possible family reaction(s) to her decision to purse genetic testing. I think that this is a valid topic to discuss openly and candidly with her. Ultimately, the patient’s decision is hers, she needs to do what she thinks is right. Listing possible family reactions is difficult, as each person in her family will have different knowledge of what genetic testing is and what the possible results would be. I would ask the patient open ended questions to figure out who she is most concerned about. I think the biggest obstacle for family members is not understanding what genetic testing is and what are the implications of testing and having to face their own possibility of having increased risk of cancer/death. Depending on the family members, this patient could potentially be shut off from different family members for pursing this testing, where as other family members would be supportive and/or get tested themselves. As others have posted previously, we will support and give the patient and family members as much information as they need. I am so glad that we have genetics counselors here for this expert support!
ReplyDeleteA patient that you are working with is concerned about her families reaction to her decision to pursue genetic testing. What could be their concerns, and how could the outcomes from genetic testing affect family dynamics and future decision making such as family planning or inheritance?
ReplyDeleteOne of the first things that comes to mind for me when I think about concerns with genetic testing is: Will insurance companies pay for not only the genetic testing, but for any treatments that are recommended after the genetic testing is complete? A lot of these treatments are probably newer to the face of medicine with probably not a whole lot of statistics to back them up yet to be proven effective in the insurance companies eyes. If a patient goes through genetic testing to find personalized medicine to treat their disease, they are going to get their hopes up for a possible cure and/or treatment. This may all fall to the wayside if the insurance company is not willing to pay for it, and the patient or their family is not in a position to pay for the costs out of pocket.
I think this can affect the family dynamics in any situation, whether cancer or otherwise. You are opening up a whole new subject matter that can potentially affect everyone in the family in many areas of their lives. This can be a good thing for many of the family members involved, but it can also have detrimental effects for some as well. Some may look at it as science is trying to “play God”, while others may look at it as God has given science the tools for us to utilize to help others. It is all in how you want to look at it.
Brenda Chiappetta, RN
Wound Care
Brenda.chiappetta@ctca-hope.com
Hi Brenda,
DeleteGood point about insurance plans covering genetic testing. The financial burden this can possibly add to a family would be overwhelming, I would think. Agree with your posting on how science and religion can play an important part of the family’s decision. This can be quite complex and not as simple as saying yes or no to this kind of testing. Brenda, how you nicely stated that it is all in how one wants to look at it. Always the patient’s decision and right to choose.
Hi Brenda, There are a lot of legal and HIPPA aspects of genetic testing and what can be accessed and not accessed by insurance companies both medical and life insurance. Before a person gets tested they need to be aware of both the postive and negative aspects of the affects of medical/life insurances.
DeleteBefore I answer this discussion, I would like to give a big shout out to Eric Fowler our own Genetic counselor for practicing the "Mother Standard of Care" I thank You and Applaud you for everything you did for me during my genetic testing.
ReplyDeleteI think one of the biggest concern for the patient & family are financial retributions and not fully understanding what the test is all about.It isa very new area in the field of science & testing so not a lot of people is aware of this test. Genetic testing can be both useful and stressful. With good education, the patient will able to accept the result whether positive or negative. Positive result will help the oncologist determine what treatment plan for you and your family to tackle.Godd treatment plans meant excellent outcome.Being proactive is always an advantage.Stressful if insurance will not cover it.It's hard enough to be physically ill and financially burden as well. And of course negative result is always what we want for peace of mind. With the various scenarios it can have a big impact to family dynamics.
Many postings above, have already mentioned the need for a family meeting. I would recommend for the entire family to meet with a Genetic Counselor to explain the process and answer any questions or concerns. Ultimately, the decision is the patients if she even wants to pursue the testing or not. Patients and families are usually scared of the “unknown” and this creates a lot of anxiety either way. There’s the possibility that some of the family may test positive and some test negative. Possibly, the positive test carriers will have guilt about passing these genes to their offspring. Maybe the family will decide to have children, maybe not. Some families may decide to leave an inheritance to certain members of the family, depending on how they test. This can be quite a controversial topic, as there is not a definitive right or wrong answer to gene testing.
ReplyDeleteI agree Gail that a genetic counselor can be very helpful in assisting individuals with dealing with testing results. The unknown can cause alot of anxiety, and someone who can provide answers and resources can be very valuable.
DeleteDuring the gentic counsel meeting, you would need to question the patient as to what would be a concern to her about the family reaction...What is she concerned about?. What we might think is a concern might not at all be to her. What is her prespective? Based on what her concerns might be would then assist in the outcomes and planning. Such as family planning and inheritance. One person might think even if they will pass on the possible mutation to their infant, they will still want a baby. Another person with the same mutation might choose not to become pregnany. Again it is all in what the patient is concerned about.
ReplyDeleteGenetic counseling is available in CTCA to educate and inform our patients about genetic (hereditary) testing options and results. We use a hereditary risk assessment in which family history questionnaire is filled out to determine if one is a candidate for genetic testing. A referral order from doctor is necessary in order to consult with one of the counselors from the Center for Advanced Individual Medicine who offers the latest advances in genomic testing. Family meeting is a good idea prior to testing to discuss concerns and see reactions from the family members. Some tension is expected as there will be anger, guilt, fear, sadness, happiness among family members. However, it’s important to remember that testing positive for gene mutation is not a guarantee of developing cancer. Some people who tested positive for mutation never got cancer.
ReplyDeleteHi Jennifer,
DeleteThank you for pointing this out. It reminds me that I should mention this to my patient's more often because it is becoming a more popular topic. I have had so many patients with younger children is the past few months and they worry about their children going through what they are going through, but worry that the testing is too difficult or expensive, and inconvenient for family members. This is a great teaching opportunity for many patients.
Stephanie Spooner
Great post Jennifer!
DeleteEducation is the key. and as you illude to not just the patient but the entire family. having the gentically identified increased risk does not mean for sure one will get cancer. One could hypothesize that without proper education the increased anxiety caused from the results could lead to lifestyle changes that could inadvertanly increase the risk more than the genetic risk factor.
• What is the difference between genetic and genomic testing?
ReplyDeleteGenetic testing looks for specific inherited mutations in a person’s chromosomes, genes, or proteins. Genetic mutations plays a role in over 50 different hereditary cancer syndromes and can tell if a person from a family with the syndrome carries the mutation. Genomic testing reveals the DNA alterations that are driving the growth of a cancer. The gene mutations allow specifc targeted cancer therapy based on the tumors genomic profile and not on the type of cancer.
What is the importance of a psychological assessment as part of the cancer risk assessment?
Psychological distress affects one third of cancer patients (http://www.medscape.com/viewarticle/832861). When genetic/genomic testing is done there are many psychological factors that affect both the patient and their families. Feelings of guilt, secretiveness, disclosing of results and how it affects other family members, worry… This assessment also crosses ove to family memebrs and thei distress with dealing with a loved ones disease and possibly their own risk with mutation.
Pat Dillow
This is my first blog yeah!!! but also a very difficult one for me personally. I have family with the BRCA 1 mutation and I can say it is a very emotional rollercoaster. I am an ardent supporter of genetic testing but it is very challenging and emotional when family members oppose it. There is much fear with the reality of it all when you have a 50% chance of being positive and some would rather be in denial. Education is key.
ReplyDeleteThanks for sharing your personal connection to genetic testing and how it has affected your family. Certainly having a family connection to a mutation/syndrome puts things in a very different perspective when you are caring for a patient as their nurse.
DeleteThanks for sharing. I have a strong family history on my maternal side with colon cancer. Two members were diagnosed under the age of 60 who passed away then one at the age of 46 who luckily was diagnosed very early. Genetic testing was done which showed absolutely no mutation. Prior to the testing her children were actually debating whether or not to be tested. Since the mothers results were negative, the family actually felt like a huge weight was taken off their shoulders. But definitely makes me wonder if her children would've pursued testing and early colonoscopy screenings? Especially being so young (in their early 20's). In other words, age and maturity plays a factor with decision making especially with such an important decision that can affect the rest of your life.
DeleteSometimes it is hard to make a decision especially like in the event that you will go through a genetic testing to find out if there are any abnormalities that could be in the genes that can affect other family members. On the contrary, why will this be hard if the intention is to find out what can be a problem in the future. For me, genetic testing is a must and must be supported by the family members especially if there is strong family history. The fact that you are willing to go through this test means that you care, not only for yourself but as well as to the other generations of your family. At this age in time, we all have to be realistic. Realistic in the sense that what we need to know now maybe will help us prevent something in the future.
ReplyDeleteAs cold as this may sound, some people do not care about how genetic testing can and will affect other family members. It was extremely challenging to try and get my aunts and uncles to agree to genetic testing knowing full well it would help me and my children. They refused to believe that they could have this genetic mutation. It was like acknowledging that the problem came from that side of the family. They did not want that black mark! Now that is an elderly generation. But, I have a neice and nephew in their 20's who's father has the genenetic mutation and have not been tested! My daughters and I fail to understand why!! I agree with Richie that this knowledge can be valuable in the future. Why some people choose ignorance is beyond my understanding.
DeleteGenetic testing can have both pro's and con's to it. They always say, "what you don't know can't hurt you". Then again, with cancer... it can. I think her family might be concerned to find out that they may carry a specific gene that increases the risk for cancer, however, everyone has the right to be tested for it especially if they have all 3 risk factors mentioned in the article. In my opinion, I think it's better to know in order to stay ahead of the game, however, others may feel that knowing can interfere with their life and the decisions they may want to make for the future such as having children.
ReplyDeleteDeciding to pursue genetic testing can be quite challenging for all. Concerns that could arise are how to proceed with results? Will these change anything to treatment now? or Will this result in any lifestyle changes?
ReplyDeleteResults can also play a huge role in the family and impact decisions such as those involved with family planning.
Fear and insecurity can also arise if results are positive and a genetic predisposition for cancer discovered.
As nurses, I believe we must educate and assess the readiness for such testing. When indicated, it becomes of the outmost importance to provide accurate and detailed information so our patients can make informed decisions.
Jessica Mendez (Guzman)-RN RPC
Hi Jessica,
DeleteI like that you brought up lifestyle changes. It would be interesting to research if certain lifestyle changes could affect the possibility of certain cancers more than others. For instance, does sugar seem to "feed" certain cancers more than others, or does increasing exercise decrease the likelihood of developing certain cancers more that others? We obviously know that estrogen aids in the progression of some cancers, but what other things should we stay away from if we are prone to certain types of cancers?
Hi Jessica,
DeleteI also am intrigued by the lifestyle changes. I didn't even think about that. Is there a way they could decrease the potential of developing various cancers, or would the lifestyle changes even make a difference since it is a genetic mutation? This may encourage family members to lead healthier lives overall just knowing that there is a possibility of some kind that cancer could develop in their future. Very interesting thought.
Stephanie Spooner
A concerned family member may be worried about genetic testing causing unnecessary worry for the patient and the rest of the family. For instance, mutations could be present that could predispose the patient to cancer, but not necessarily mean that the patient will for sure get cancer. Family members could also then begin to worry about their own cancer risk. For some, knowing their risk could be empowering, but for others, knowing their risk could mean constant worry and/or a constant state of fear.
ReplyDeleteOutcomes from genetic testing could affect family dynamic and future decision making in many different ways. If a harmful genetic mutation is found in the patient being tested, it is more likely that other family members may have the same mutation or that the mutation could be passed to the patient’s children. This could again cause fear and excessive worry in a family member or affect the decision of the patient to have children.
Krista Gosda
Genetic testing is something that can worry a family member for many reasons. The thought of genetic testing seems to give patients and family members a lot of anxiety because they may automatically think that the family members are at a risk, when in reality that is not always the case. A family member could be concerned because they do not want the patient to worry about how their disease will affect family members. They are already trying to grasp their own disease, let alone the thought that they could be a part as to why for instance their child has the potential to develop the disease. Some people want to know their risk, whereas others would prefer the "what I don't know can't hurt me" approach. This is also important for the ages that we treat in our facility. Our patient population is becoming younger and younger. Genetic testing can help a person seek appropriate family planning counseling to preserve eggs or sperm for the future in case of intense treatment or disease advancement. Knowing sooner than later if cancer could affect a family member is a difficult decision to make, but it could make all the difference in how the disease is dealt with, depending on the likelihood that the person will develop it.
ReplyDeleteYou make a very good point when you state that some people prefer to approach this with a "what I don't know can't hurt me" mind-set. I also agree that having the tests done and knowing sooner could make for the best outcome regarding some situations. Although it could have a negative outcome if one were to find out that they have a rare or untreatable disease.
DeleteA family may be concerned about a loved one getting genetic testing for a number of reasons. They may be worried about what that means for them and their cancer risk. Perhaps, if a certain genetic mutation is found in their family member then they could also have the same risk too. Not everyone wants to know that they may have a greater risk for developing cancer as this would cause them undue worry and anxiety and concern about the future. Another issue may be concern of employment or insurance discrimination if a genetic mutation that may cause cancer is discovered. There are increased protections from this through the (GINA) Genetic Information Nondiscrimation Act that a Genetic Counselor could help a family understand. Additionally, issues related to family planning could be impacted by a positive genetic test result that has a high likelihood of passing the genetic mutation onto children. This might cause distress to someone thinking about starting a family. All of these issues and more would impact family dynamics and could cause great tension and distress within individuals themselves and between family members.
ReplyDeleteVicki,
DeleteGreat post! I keep forgeting about the impact of having genetic testing on such things such as insurance and possibly future employment.
The decision to pursue genetic testing is a patient’s right. However the decision to do so carries with it a great deal of responsibility and can present issues that can cause significant moral distress for both the patient and the family members. When you evaluate your genetic makeup through genetic testing you are also inadvertently evaluating the genetic makeup of others in your family. The family members may feel a sense of privacy invasion. The information obtained may cause family members anxiety about their genetic contribution to the patient. Some family members may be opposed to testing and may not want to know the results. If there is an increased genetic linked risk identified the patient could suffer a deal of moral distress knowing another family members increased risk and not being able to share that information with the family member due to their request. Additionally there will be an impact to the family with regards to family planning causing people to possibly refrain from having children out of fear their child could end up with increased risk of cancer.
ReplyDeleteJohn - great point about patients knowing a family member has an increased risk but not having permission to share results due to the family member's request. The potential impact of genetic testing is not limited to the patient, and this should be made clear in discussions with providers before testing takes place. Patients must be aware of the implications of results that reveal a genetic mutation before they agree to testing.
DeleteFinding out you have an inherited genetic mutation can be shocking and terrifying, especially if this presents an increased risk for your family members. It can have a significant effect on the patient's emotions, family dyanmics, and future lifestyle decisions. It is vital for patients to be aware of the potential impact unfavorable results could have before testing is done. Patients should be allowed time to process this before consenting to testing. If results do indicate a genetic mutation, it would be helpful for patients to be given guidance regarding how to communicate these results to family members who may also be affected.
ReplyDeleteI agree with you Julie! I believe it's very important to assess readiness for such testing. Results can be relieving, in a way. On the flip side...these can be scary and cause turmoil.
DeleteAs nurses we must reinforce what we know and educate! Empower our patients to make informed decisions.
Jessica Mendez (Guzman) RN RPC
This comment has been removed by the author.
ReplyDeleteWhen a patient decided to go ahead with genetic testing, it was not a decision that was taken lightly. The implications of these testing can have a lasting impact on their lives and the lives of their loved ones. Relationships between family members could be affected by these decisions. Knowing that you have a gene that puts you at a high risk for cancer is almost like finding out that you have cancer and some family members might not be ready to know these things about their health just yet. Also they might not want to know about the results because they worry that their insurance might be affected by it.
ReplyDeleteI will share from firsthand experience that whether to pursue genetic testing or not, certainly does impact family dynamics and future decision making specific as whether or not to have children. I have an inherited genetic disorder. I see it as nothing short of a miracle that after years of not knowing what this was, we were able to identify this genetic mutation and finally have knowledge of this mystery syndrome. Some family members didn’t want to be tested. My sister was tested and found to be positive of this genetic mutation. She questioned whether she wanted to have children. All three of my daughters inherited this disease from me. They have a very positive attitude about the value of being tested and knowing the results. They have made the decision with their spouses to have families knowing that their children have a 50/50 chance of being born with this mutation. Personally my advice to my patient would be to do what is best for her and not concern herself with her families reaction. She is sure to encounter some who will not agree and others that will support her decision.
ReplyDeleteI would encourage the patient to pursue genetic testing if it is what SHE wants. Regardless of what the rest of the family feels, she must do what she is comfortable with. I can appreciate directly how genetic testing can impact a family adversely. When my sister at age 29 had a double mastectomy, her doctor ordered BRCA testing. My sister was extremely hesitant to have this performed, as she believed results of testing would possibly affect her insurance eligibility in the future. My other sibling and I were encouraging her to have the testing done, knowing the outcome could potentially impact our lives and those of our children. Reluctantly my sister had the test, and it came back negative. She still feels she was 'pressured' into having the testing done, and it is unfortunate. No good feelings come out of bad situations. Unfortunately, cancer is a disease that affects the entire family, regardless of mutation status.
ReplyDeleteI agree with you nicole. Now that we have Obamacare there can be no preexisting conidtions, therefore maybe this no longer applies.
DeleteIf the person is an anxious or worried individual, family members could be concerned that a positive test result would cause overwhelming stress for the person, which could greatly impact family dynamics as family members would have increased stress in helping the person maintain a positive outlook. Depending on the efficacy of coping strategies within individual family members and the family as a whole, the added stress of knowing there is a positive test result in the family could cause breakdowns in communication and possibly relationships.
ReplyDeleteHer families concerns regarding genetic testing and the results could vary from guilt, fear, anger to relief, curiosity and gratefulness. Truly, the effects from genetic testing results on family dynamics are as varied as the individuals in the family. Ideally, there should be a waiting period between genetic counseling and the actual testing to allow for thoughtful decision making. Then upon getting the results, she should have additional counseling on if & how to communicate said results to her family. I’m curious as to the counseling offered here at CTCA and its process.
ReplyDeleteDeb, I agree with your thoughts that the results as well as the response to the results would be varied based on the individuals. That being said, I feel that being truly present for that patient and the family is an important part of nursing. We cannot predict how anyone will react, but we can be prepared to help regardless of the reaction. Thanks for your input.
DeleteChristi Ables, IR x1517
Hello All,
ReplyDeleteI can understand how a patient might be concerned about her families reaction to her decision to pursue genetic testing. The genetic testing could come back with results that change to outlook of the rest of your life. Some people might interpret test results that indicate a higher risk of disease as an absolute. Or if given results that indicate a high risk of having getting a disease, such as cancer, some people might change the whole direction of their life. Maybe for the good, but also maybe for the worse. Many of us make healthy choices in hopes of staving off disease. But if you were told that you had a high risk of developing a disease, I don't think everyone would respond to that in the same way. I feel like some would try even harder to incorporate healthy behaviors, but others might just decide to do whatever because they're just going to get sick anyway. Hopefully with good education and support, this patient would feel more at ease with her decision to purse the genetic testing.
Thanks!
Christi Ables, IR x1517.
I believe most individuals do want to know whether they have a genetic mutation or not, especially after being diagnosed with a serious illness. The issue is whether other family members want to know. We as healthcare providers know the importance of genetic testing but we also have to keep in mind that it is very expensive! A gene can cost a few hundred dollars to a couple thousand for a full panel. If a family member is also positive then what? This is where family dynamics come to play because pressure can come from multiple sides for a person to pursue additional testing. With a lack of funds this can be a very difficult decision. Family members might say "if I have it, I have it." This is why education is very important but also offering resources and support, which can be very influential in a persons decision.
ReplyDeleteRoxana Vazquez
Well said Roxana. I agree that education, and knowledge are important in making the decisions that can be difficult ones to make.
DeleteA person's decision to pursue genetic testing depends on various factors, including the perceived preventability and treatability of the disorder, and also one's ability to make constructive life changes with the information one gains from testing. On one hand, finding out that you are at a higher risk for developing treatable diseases such as some cancers or that you carry a gene for an untreatable fatal disorder could have definite negative consequences. However, testing can also help people make future decisions, plans, and other life choices for their family.
ReplyDeleteChristine Betz, Infusion RN x6200
Hi Christine, I agree with you that testing results can help a person make decisions, plans, and choices. Knowledge and accurate information is powerful. Knowing you're at higher risk for a disease because of genetics can be a powerful motivator for changing the risk factors you are able to control.
DeleteThis is true, the usefulness of the results depends upon what options are available to the person as far as prevention, treatment and cure
DeleteIf the patient is concerned about her family's reaction to her pursuing genetic testing, I'd spend some time asking her what her concerns are and what specific reactions she's worried about. I'd try and provide information to help address her concerns, and if I didn't have the information, I'd find resources or someone who could provide the information. If the patient had children, positive testing results could cause other family members to "blame" the patient for passing on the genes to her children. This could cause stress in the family. If the patient didn't have children, but wanted them in the future, positive testing results could lead to other family members being concerned about the genes being potentially passed onto the children, and might even encourage her not to have children. This could cause stress for the patient as well as her partner.
ReplyDeleteI think you make a good point in asking what her concerns are and what results concern her the most. It is important to learn about the patient and their coping skills, family support and what they already are knowledgeable about.
DeleteThe families concerns could be for the emotional health of the patient. Finding out that one may test for a particular disease can be stressful and alter a way of life. They family may also be concerned for the results and what those may mean for their loved one. The results could change the dynamics by changing roles within the family. The one who always cared for everyone now may need the care. The caregiver may become the patient. The results may affect the choice of having kids whether it be to have them or not have children. That can be a rough time for any couple trying to decide this based on the results of this test.
ReplyDeleteI agree with you Roxana patient are between a rock and hard place when the don't have an insurance company that will cover the cost of the genetic test.
ReplyDeleteI believe a patients concern could be a very emotional one and including all family members involved and discussing the process of genetic testing and how this may affect them later in life may ease some of the anger and stress in their lives. Communication and Knowlegde is the key.
ReplyDeleteThe results of testing could be controversial within a family. Some may feel this is causing unnecessary worry and others my not want to know results. Of course knowing can allow someone to make a plan, either for prevention or to save money for possible treatments for self or children. Though they may worry about passin on an inherited potential to their biological children.
ReplyDeleteAlthough genetic testing could help understand many conditions and early treat/act on these. Now-a-days with ongoing changes in health care reform/policies genetic testing can lead to (not only) the emotial, but the with financial burden that a CA diagnosis brings along. Family members can potentially be declined of coverage due to a "pre-existing" condition or being considered a 'high risk" individual.
ReplyDeleteHortensia Walter
Eric and Erica our genetic counselors are wonderful in giving the patients all the information regarding the genetic testing. I agree I'd also would want to know if there is a genetic disorder in my family.
ReplyDeleteGenetic testing is fairly new in respect that it is somewhat affordable nowadays and therefore more available to the public. Some people, maybe older generations do not agree with genetic testing and this is a valid concern for a patient to have in mind. It is possible that a woman, who was planning to have children, not wanting to have kids anymore once she finds out that she is a carrier.
ReplyDeleteI think there are several benefits to genetic testing. However, I can understand the concerns the family has with knowing detailed information that may predetermine their "fate". That is what I assume this family may be feeling. I am a strong believer in mind over matter... In fact, there is a fantastic book called "Anti-Cancer", its about a doctor that diagnosed later in his life with glioblastoma and had a prognosis of less than 6 months to live. With dietary change, lifestyle change, meditation, and leading a minimal stress life, he was able to manage his diagnosis and he lived for 25 more years! So i believe that if you give into your fears and the "downers" of life, they will no doubt get you down.... And may be that is what this family fears.
ReplyDeleteI personally would have no desire to know my genetic predisposition. If there was something serious in my family, i may then consider testing, but it is a scary notion to know what genes i possess.
The benefit of this family understanding their medical predisposition is the young individuals that are working on family planning. They can understand the risk their children possess and possible make life style changes as preventatives.
Pat Dillow 11/26/14
ReplyDelete1. Addiction: if you review the ASAM definition of addiction it takes you further from the usually definitions to their short version definition : “ Addiction is characterized by inability to consistently abstain, impairment in behavioral control, craving, diminished recognition of significant problems with one’s behaviors and interpersonal relationships, and a dysfunctional emotional response”. But when you delve further into their website it takes you to the genetic factors that influence 50% of the addictive patients. http://www.asam.org/for-the-public/definition-of-addiction
So taking this one step further – how to determine if a patient has the fear of not having enough pain meds and are we looking at “pseudo-addiction” or true addiction. Our patients have an even greater challenge as they cannot just call, go to the office, pick up the prescription and go to the pharmacy. Our patients have to call, wait for an overnight letter with a hard copy and then continue on this journey. If they live remotely it can take 2-3 days to receive and “overnight” package. This fear compounded with the cancer/surgical pain is unimaginable.
2. It might be difficult for the cancer patients themselves to distinguish between these pains dependent upon their course of care . A perfect example is a patient that takes tincture of opium for his diarrhea and absence of a colon for absorption. We had a patient here with this same scenario a few weeks back and the amount of pain meds that he had to be given for pain relief post-op stunned the team. If you did not know this patient and do a thorough history you would have thought he was drug seeking or addicted. His chronic pain it is taken care of by the T/ O, his acute/end of life pain is/will be hard to distinguish and treat without fear of depressing his systems. He was given an astronomical amount of pain meds that depressed his resp. system, but his BP remained high and he was in severe pain. This is why a well-educated pain team is key in the cancer patients care.