Yesterday I made the whole team cry. Thankfully it wasn’t because I was making unreasonable requests related to productivity or deadlines. Instead, I had slotted off the morning so that we could all watch a movie together—Decoding Annie Parker (2013; we borrowed it from a local library). Without spoiling the entire plot for our readers, suffice it to say that the movie, based on actual events, follows a woman (Annie Parker) who has a strong family and then personal history of cancer. In parallel, the movie follows the decades of research by Dr. Mary-Claire King and her team on their road to discovering the BRCA1 gene.

We blog about the BRCA1 and the related BRCA2 genes regularly, but as a refresher—certain mutations in these genes lead to an increased risk to develop breast and ovarian cancer, among other cancer types. Additionally, BRCA1/2 mutations can be passed down from parents to offspring, and the chance of having a BRCA1/2 mutation is ten-fold greater in individuals of Ashkenazi Jewish descent than it is in the general population. BRCA “status” can be revealed by genetic testing, and BRCA mutation “carriers” have medical management options available to them for reducing the risk of developing cancers or for detecting cancers at a very early (and perhaps treatable) stage if they do develop.

It was my second time seeing the movie, and also my second time crying through it. But this time I also watched it with different eyes, since our Program has gotten more and more involved in the BRCA education and testing realms over the past two years. We talk and talk about the importance of knowing and discussing one’s family medical history. Even in the 1970s, before the concept of hereditary cancer predisposition syndromes existed, Annie Parker (and undoubtedly others like her) had the gut feeling that cancer was running in her family and that it was always lurking in the shadows, waiting to get her. And this caused Annie to live in constant fear and to obsess over things like breast self-exams, library searches, and diets.

In our times, we are fortunate to have the genetic knowledge about the implications of familial BRCA1/2 mutations and the ability to test for carrier status and to guide those who are identified as carriers. While being Ashkenazi Jewish is in and of itself a risk factor for carrying a BRCA mutation, this risk factor is exacerbated by having a family history of BRCA-related cancers. Under current guidelines from the National Comprehensive Cancer Network, being Ashkenazi Jewish and having a first or second degree blood relative (meaning a parent, child, sibling, grandparent, grandchild, aunt/uncle or niece/nephew) who has had breast, ovarian or pancreatic cancer at any age would warrant pursuing BRCA testing (along with genetic counseling). Many of us probably fall into that category but don’t realize what this may connote.

Getting back to the movie and all those tears—it’s been a really busy summer at the PJGH so far, and it was definitely a welcome change of pace to have “PJGH movie in the morning.” It was also really powerful and authentic have a good “group cry.” I think the whole experience reinforced our joint commitment to protecting the genetic health of the Jewish community and its future generations. But I still need to think about why the team is rallying for seeing Pitch Perfect together next.

PS The movie we saw (at work) was pretty graphic on multiple levels–consider yourselves warned…

Striking the Balance: Giving Advice while Respecting Privacy

2015-22-June-Balancing-Act-2Genetic counselors tend to be very attuned to the details in the ‘big picture.’ We take very detailed family histories when we meet with patients because we look for patterns which may suggest a hereditary component to a family’s medical concerns. We are trained to think critically and to not just accept things as chance.

This method of thinking is a skill we need in the workplace, but I find that it is difficult for me to separate my ‘work brain’ from my ‘real life brain.’ When I identify a situation where I believe that a genetics evaluation or genetic testing may be appropriate for an individual or a family, it’s hard to “turn off” the instinct, even if the situation is in my personal life where the person or family involved is not my patient.

On occasion, I will see a mother with her kids at the supermarket or on the subway platform and something about the child’s appearance or behavior will make me wonder if there is something genetic going on in the family. Other times, I will hear about a young woman in the community who is struggling with cancer and whose mother had died young. Other people post on social media about praying for her,  about helping the family by providing meals and childcare, and there will be comments about how sad it is that this family is going through so much. But my first thought will be: Hmmm, I wonder if there is a genetic basis to this family’s cancer.  And even strangers who learn that I am a genetic counselor will tell me their stories about seeing a counselor years ago for their child’s developmental delays and how it was a waste of time since all the genetic testing was normal and nothing was solved.

It is times like these when I struggle to decide whether or not I should speak up and recommend a consultation with a genetic counselor (sometimes, a second visit is warranted since newer technologies have been developed and testing may be different). Close friends or family members who know that I work in the field of genetics would probably welcome my advice, but what do I do when I don’t know the person at all or I may know “of the” person, but we have no relationship? Am I overstepping my boundaries?

The answer is, perhaps. But as genetics professional, I feel that I have a responsibility to help families and my community by sharing my expertise. How to best approach it? That, I don’t know. I find that the solution is very case-by-case, and I need to try to determine how my advice will be received. I remember when my son was 6 months old, a friend of mine who is an occupational therapist mentioned to me that he tilts his head too much and I should consider a physical therapy evaluation. I thanked her for her gratuitous advice and got an appointment for him later that day (he’s doing fine now!). But would I want a stranger telling me to do something?

One good way to approach this, especially with a stranger or an acquaintance, would be to try to find an intermediary who may be better suited to reach out to the person. If I can find someone I trust who knows the person, perhaps he or she can broach the topic and tell them they know someone (me or another genetics professional) who can help them.  Only if I am feeling very bold would I actually say something to a stranger. But I would just hate myself for walking away knowing that I had the opportunity to help someone.  I hope that people do not see such advice as me trying to be nosy, but that they accept and appreciate that there are those people who may be able to help them, and that we genuinely want to be there for them as they struggle through a hard time.

I recognize that there will be situations where I can’t find an intermediary, and I can’t work up the courage to make recommendations to a complete stranger. That’s why publicizing the availability and importance of genetic counselors may help that family or other families in the future. The more that people recognize the utility of a genetic counseling visit, the more likely it will be that even if I can’t make the recommendation, perhaps someone else will.

Summer vacation for everyone!

sunflowersSummer is here, and for many, especially those on a school schedule, this means summer vacation! Families often take this opportunity to travel together, have adventures, and spend some quality time together.

Travel is one of those things which is stressful and overwhelming for many people, but until today, I never really thought about the added burden travel could bring when one of your passengers has special needs. What if you have a child in a wheelchair? Or a child with autism? What if your child has a feeding tube? Or has visual impairment? Travel and vacation has just become much more complicated, because in addition to the typical itinerary and accommodations, you now need to research and plan for many other things specific to your family’s needs.

This morning, I was alerted to the existence of a really cool website developed to help families navigate travel with individuals with special needs. Started by a mother of two kids, one with special needs, Special Globe has tons of resources including helpful information from the CDC and TSA, tips and tricks, and even notes about how accessible various attractions are in different vacation spots.

While I know this post isn’t as applicable to most, chances are, you know someone who might benefit from this information. Pass it around! Have a great summer!

Tay-Sachs and BRCA Testing on the Same Day?

Can you also test me for BRCA while I am here already?” asked my 21 year old patient. He was in my office about a month before he was planning on proposing to his girlfriend. He came because he knew his sister was an FD carrier and he wanted to get screened for this condition as well as others that are common in Ashkenazim, since if both he and his partner were found to be carriers of the same disease, they would have a high risk of having an affected child (25% with each pregnancy).

I had just finished counseling him about the diseases we would be testing him for and the reproductive options for carrier couples, when he glanced at the BRCAcommunity study brochure that was lying on my desk. The cover reads:  BRCA testing is right for some…Is it right for you?  That was when he asked his question that many others also have asked since. “Can you also test me for BRCA while I am here already?”

Testing for BRCA is not like testing for Tay-Sachs, but I understand why the question was asked. (Note: for the remainder of this blog, I will use Tay-Sachs as the example of preconception testing, but testing is recommended for a much larger panel of diseases). We talk about how certain genetic conditions are more common in Ashkenazim.  We talk about Tay-Sachs disease and BRCA-related Hereditary Breast and Ovarian Cancer (HBOC) syndrome as examples of this all the time. And we advocate for genetic testing before contemplating a pregnancy, so why not kill two birds with one stone and do it all at once?

The answer is complex and related to the differences in the conditions themselves. The first difference has to do with the nature of the diseases; that is, Tay-Sachs and the other common diseases for which we test preconception are diseases that occur in infants or young children. Some of the diseases on our panel end in early death and others progress throughout one’s lifetime, but they are all chronic diseases that burden the affected individual for the long-run. HBOC is in a different league since it is adult-onset. We don’t see BRCA-related cancers in infants or young children.

Furthermore, if a child has inherited both non working copies of the genes that cause Tay-Sachs, that child will have Tay-Sachs. However, if someone has inherited a genetic mutation in BRCA that causes HBOC, that person is at increased risk to develop a related cancer, but it is not a guarantee.

The reason we recommend carrier screening for Tay-Sachs and diseases in that category is so that couples could be made aware of their risks to have a child with a debilitating disease before they conceive or early in a pregnancy, and may make reproductive and life decisions based on their risks. Does information about adult-onset diseases—that are not even guaranteed to happen—fall into the ‘want to know before contemplating a pregnancy’ bucket?

The second difference between Tay-Sachs and HBOC has to do with inheritance patterns. Tay-Sachs is transmitted in an autosomal recessive manner; that is, carriers are not at risk of developing the disease themselves, but their offspring are at risk if both parents are carriers. HBOC is an autosomal dominant syndrome, which means that if someone carries the mutation, he or she is at increased risk to develop the disease (not just the offspring). In addition, each of his or her kids have a 50% chance of inheriting the mutation and its associated cancer risks—regardless of the other parent’s carrier status. When going to learn about your potential children’s health in a preconception genetics appointment, would you also be ready to learn about your own health risks?

My two points about the differences between Tay-Sachs and HBOC are pretty strong, and because of them, I do not know of any reproductive genetics practices offering BRCA testing in the preconception realm. The one argument that supports preconception BRCA testing is that if a couple knew that one of its members carries a mutation, this couple might consider doing pre-implantation genetic diagnosis (PGD) to select against BRCA-mutation carrying embryos when planning their families.

So while PGD is an option for BRCA carriers, we generally do not offer preconception screening for BRCA to all those of Ashkenazi descent (an exception could be someone who has a known mutation in a close family member, or someone with a strong family history of cancer). The counseling for BRCA is very different than it is for Tay-Sachs, and genetics professionals do not believe that a session about preconception carrier testing is the appropriate environment to bring it up. I wonder if our patients would agree.

Making Histories: Tree of Life, A BRCA Conversation

Guest Blogger, Sherry Kabran, writes about her amazing new project, Tree of Life, A BRCA Conversation

tree of lifeWhile in mourning, some try to cope with their emotions and loss by writing journals, going to support groups, blogging, running races, attending daily minyans, even starting cancer oriented organizations.  The women in my family found their own ways to accept the loss of Carolyn Raizes Davis, mother and sister, but together we created Tree of Life:  a BRCA Conversation guide for Passover, Shabbat and Rosh Chodesh.

Each guide helps Jews of Ashkenazi descent understand basic facts about hereditary cancer risks from BReast CAncer gene mutations.  The highlighted message is that every family should create a family medical tree, look for red flags and consider genetic testing, if appropriate.  The guides provide a Jewish setting in which to start a serious conversation that might save the 1 in 40 Jews of Ashkenazi descent, who unknowingly has a BRCA gene mutation.

This family project was our suggestion to FORCE (Facing Our Risk of Cancer Empowered) to further reach out to the Jewish community with a teaching tool.  How could we not try to help?  Carolyn passionately believed in teaching the community about BRCA gene mutation risks and worked closely with The Methodist Hospital doctors in Houston, Texas, to develop an educational program.  Her legacy was EDUCATE anyone who will listen!

My younger sister, Francine, and I decided Passover was an ideal time to have a multi-generational discussion about gathering medical histories.  We know about oranges and coffee beans on the Seder plate.  How about a tree branch, to represent the importance of medical family trees?  Each guide provides: an introduction to start the conversation, a BRCA branch symbol of family trees, a choice of videos, a medical history form to gather health information, Debbie Friedman’s Mi Sheberach prayer and suggestions for next steps.

Of course I googled “Passover & family histories” and found Chani’s post suggesting families do just that, at the Seder table!  Her blog is incredibly informative and thought provoking.  Plus, she told me to take the conversation guide idea and run with it.  Thank you, Chani, for your encouragement.

The Davis/Raizes/Kabran family hopes readers will explore the guides ( and decide to use one during family gatherings.  Please tell us about the experience. Also, help us save lives by sharing the website on Facebook and forwarding the free downloadable guides to family members, friends and community leaders (Jewish organizations are beginning to offer BRCA educational programs).  Your suggestions for use of the guides and ways to publicize would be greatly appreciated.

Thank you,

Sherry Kabran:

A Plea to Science Writers

newspaperI read a lot of articles. Being that I work in the field of genetics, not only do I have a Google alert which sends me articles relevant to my work, I also have the benefit of my family and friends sending me articles which they see as relevant to my work. Sometimes I get the same article sent to me 3 or 4 times, because when someone comes across an article even peripherally related to genetics, they think of me, and send it along (Thanks, Dad!). On occasion I even speak to reporters who are in the position of writing some of these articles, and I try to educate them as best I can, and give them the necessary information so that they can convey it to their readership. So for all of those writers out there, those I’ve spoken to, and those I haven’t, I have a very important message for you:

You matter. Your job is so unimaginably important, you may not even realize it. You are presenting often complex scientific concepts to the community. For some, reading your article is the first time that they have even heard about the topic or the first time they have started to think critically about it. This exposure is your one opportunity, and it’s our (the medical community’s) opportunity too. Most people are not proficient in the sciences, and particularly in the realm of genetics, and much education is needed as genetics and genetic technologies become increasingly relevant in our day to day lives.  Individuals will read your article and form opinions about how your topic affects their life, based on what you write! For this reason, it is SO important that the information you present is both accurate and clear.

This may sound obvious, but sadly, I come across many articles, specifically those written about genetics, where there are glaring issues; scientific terms used incorrectly, statements made which are false, and quotes misused. As a genetic counselor, I read these articles and the mistakes drive me nuts. However, it’s the unsuspecting community who suffers from these inaccuracies, as they don’t know any better but to accept it at face value and believe what they are reading; what YOU are writing. Sometimes, when you try and “simplify” it, what you end up doing is totally missing the boat, and your work ends up misinforming the public, rather than educating them.

So, to you, science writers, please be responsible with your valuable work. Many members of the scientific community (granted, I can’t speak for everyone!) would much rather proofread your writing for scientific accuracy than see another article published which sets us back in our efforts to continue to educate the public. Use us as a resource. It will help us all in the long run, improve the accuracy of your work, and increase public access to reliable information about science, medicine, and genetics.

Running from your cancer family history

girl-running-away-clipart-frightened-man-running-clipartI recently came across a blog post by a friend of a friend. She was opening up about her recent diagnosis of cancer. The beginning of her blog was something along the lines of “I’ve been running from my family history of cancer for as long as I can remember. Knowing that all of these people in my family had been diagnosed, I just kept on waiting for the grim reaper to come and get me too. Now that I’ve been diagnosed, I guess I’m not running anymore…”

I’ve heard this sentiment time and time again, both from patients and from friends. People recognize that their family history of cancer plays a role in their own risk for cancer, and many people live with this shadow hanging over their heads. The waiting and the worrying, the fatalism of it all; the sentiment of ‘these people in my family died cancer, and I know I’m going to develop cancer too, and there’s nothing I’m going to do but sit, wait for it to happen, and try to put it out of my mind.’

I recognize that different people approach fears and anxieties in different ways, but this “wait and do nothing” approach drives me NUTS. If you are aware that you have a strong family history of cancer, there are many practical things that you can and should do, other than sticking your head in the sand. Some of these things might save your life.

  • Have regular annual visits with your primary doctor. This might be your primary care doctor (PCP) or family medicine doctor, or even gynecologist. Do not go to a doctor only once every 5 years when there is a problem. Tell your doctor if you have a family history of any medical issues. Routine preventive care can help you catch health problems before they become serious.
  • Engage in screening for the cancers that run in your family. Unfortunately, effective screening tests do not exist for certain cancers. However effective screening tests do exist for many other cancers, for example, breast cancer, colon cancer, and skin cancer, to name a few. Speak to your doctor (see #1) to find out if effective screening exists for the cancers in your family. The rule of thumb is that your cancer screening should begin 10 years earlier than the youngest case in your immediate family.
  • Stay away from tobacco. Stop smoking, and avoid second hand smoke. Smoking causes cancer. And for those who already may have a hereditary risk for cancer, smoking does not help you, my friend.
  • Consider meeting with a genetic counselor. A genetic counselor will review your family history and give you a sense if he or she thinks there may be a hereditary component to the cancer in your family. The genetic counselor will also discuss with you your genetic testing options. Finding out that you have a hereditary predisposition to cancer may provide you with a better plan for cancer screening, or risk reducing options, and will help identify other family members at risk of having the same issue. By engaging in genetic counseling, you are helping yourself and your relatives!

An example: If your mother, aunt, and brother all have been diagnosed with gastric cancer, you should be getting upper endoscopies annually, starting 10 years before the earliest cancer diagnosis. So you take my advice and you meet with a genetic counselor. The genetic counselor says that she thinks the cancer in your family may be caused by a rare hereditary cancer syndrome called Hereditary Diffuse Gastric Cancer. She recommends genetic testing for the CDH1 gene, and explains that if you in fact had a mutation in that gene, she would recommend that you speak with a GI specialist about having a prophylactic gastrectomy (removal of the stomach) since screening for gastric cancer has not been proven effective at identifying cancer at an early and treatable stage. ‘What???’ you say. ‘Remove my stomach? That sounds crazy! And so extreme!’

Perhaps, but this is how you continue to live a healthy life without the burden of stomach cancer looming.

Because in the end, you have two choices:

  • Run away from your family history and stick your head in the sand (not my favorite).
  • Turn around, face your fears, and address your cancer risk. To risk being redundant, that may be in the form of (1) finding a primary doctor and telling him or her about your family history, (2) asking your doctor to manage your screening regimen, (3) stepping up your screening regimen to be more frequent so that if you do develop cancer, you can catch it at an early and treatable stage, or (4) discussing other risk reducing strategies with your doctor to determine what makes most sense for you in light of your family history.

You do not need to die from cancer just because you have a family history of cancer. Your cancer risk exists, whether you chose to acknowledge it or not. Ignoring it does not actually make it disappear. It just takes away your ability to take any proactive steps to maximize your health and the health of your family.

Update Your Genetic Testing! A Different Perspective

to do listLast year I blogged about the importance of updating your preconception carrier screening between pregnancies since new diseases are added to the testing panels pretty often.  This is a topic I am very passionate about and always tell my patients, friends, and relatives. More recently, I started to think about the idea of “updating genetic testing” from a different perspective.

When I take family histories in a cancer genetic counseling session, my patients often tell me that a relative had cancer years ago, but he/she did genetic testing and was negative (ie- had normal results). While this information may be helpful, I often tell them that if the genetic testing was done a while ago, they may want to get more testing done since there are now better testing options in the realm of cancer genetics than there were years ago.

“Updating” in the preconception realm generally refers to adding on additional diseases to the panel, and in the cancer and pediatric realms, it can refer to repeating a test that was already done, using a different testing method with a better detection rate, or pursuing genetic testing–for different genes–that was not available at the time.

Let’s look at individuals who have strong personal or family histories of breast/ovarian cancer (“high risk”) as an example.  In 1996, ‘sequencing’ (scanning the entire gene) for both BRCA1 and BRCA2 became commercially available through Myriad Genetics, the only BRCA testing lab at the time.  At that time, we had already identified that there are three mutations in these genes that are more common among Ashkenazi Jews. Since about 95% of Ashkenazis who have a BRCA mutation will have one of these three mutations, genetic counselors would order ‘multisite’ testing (genetic testing for those three mutations only) for their Ashkenazi high risk patients. As research has advanced, new techniques with higher detection rates were introduced to the market. In 2002, Myriad added a new test to identify 5 large rearrangements in the BRCA genes and in 2006, they added ‘BART’ testing, which looks for large deletions and duplications throughout both genes. With each new technology applied to genetic testing in the same gene, the detection rate has gotten higher. Since then, genetics professionals have recommended that high risk Ashkenazi Jews who test negative for the three common Ashkenazi mutations complete additional genetic testing in the BRCA1 and BRCA2 genes– full sequencing and BART testing. Multisite testing is still used as the first step (and sometimes only step) of testing Ashkenazis, since it is likely that if one has a mutation, it is one of those three. And to take it a step further, high risk individuals who test negative for all known BRCA mutations are being offered genetic testing for panels of many genes known to be associated with breast/ovarian cancer.

So when my patient with a very strong family history of ovarian cancer tells me that her affected sister had BRCA testing in 2001 and had normal results, I feel a slight sense of relief, but I still have concerns that there is a hereditary component to the family’s cancer. I recommend that they come back in for more comprehensive testing, if possible. The same holds true for pediatric or adult patients with genetic concerns that have not been identified.

Just as family histories are dynamic, and people may develop medical issues over time, so too, the availability and breadth of genetic testing is not static and is expanding at a fast pace. I now tell most of my patients to check back with us in a year or two, because more information or more testing may be available at that time. While it may be hard to keep up, a consultation with a genetic counselor who is knowledgeable in the field might be very helpful to you and your family.  You can find a genetic counselor near you at

Raising Awareness –a Key to Prevention

KEEP CALMA genetic counselor colleague of mine just posted the singing group One Republic’s new music video , “I Lived”. The video features 15 year old Bryan, who gives us a glimpse into living with a common genetic disease, cystic fibrosis (CF).  The lyrics to the song are an inspiration, as are the interludes of Brian speaking about his dreams for his (short) life (The life expectancy for an individual with CF is about 36 years).  I will admit that I cried when I watched it and bet some of you will too. I started to think about how amazing it is that a band with such a huge following (the video has 12,608,608 views on YouTube!) was able to make an impact on the CF world with a statement that is 5 minutes and 39 seconds.

The purpose of this blog is not to talk about CF, but I will give a brief synopsis of the condition. CF is one of the diseases that we talk about in every reproductive genetics appointment at our clinic at Montefiore.  Like SMA and fragile X, CF carrier testing is offered to all women who are pregnant or considering a pregnancy. Carriers of CF have no symptoms of the disease, but if their partners are also carriers of CF, then there is a 25% risk with each pregnancy that the child will be affected. Unlike many of the specifically Ashkenazi diseases we screen for, CF is pan-ethnic. It is estimated that 30,000 children and adults in the US and 70,000 worldwide are affected with CF. The Cystic Fibrosis Foundation has done phenomenal work in the realm of education, advocacy, and fundraising for research initiatives, and you can visit their website to learn more about the disease.

I think about all of the recent publicity for different diseases and it amazes me…This past summer’s Ice Bucket Challenge to raise awareness for ALS, Angelina Jolie’s op-ed in The New York Times disclosing her BRCA carrier status, Catherine Zeta Jones’s disclosure that she is being treated for bipolar disease, Movember’s amusing mustache-growing competitions during the month of November to raise awareness for men’s health issues, and the Cincinnati Bengal’s  recent high-profile fundraising campaign to sell Devon Still’s jersey for pediatric cancer research (his 4 year old daughter is battling cancer).  What an impact these movements have made on the world!

Young Bryan from the One Republic video, and all of these public figures, are doing a service to us by telling their stories.  Awareness and education about these diseases are not only essential to empower people to try to take preventative measures for themselves and their children, but it also plays a vital role in increasing understanding about diseases and their impact. Genetic (and non-genetic) diseases should not be taboo to discuss. So please, if you feel comfortable, share your stories. You don’t need celebrity status to do so.

The Case for Research Participation

research-participants-wanted-NEW-300x156As part of my training to become a genetic counselor, my graduate program had us participate in a Research Rotation. No, we didn’t sit behind microscopes and make scientific discoveries. A large part of this rotation was following around research assistants as they attempted to consent patients in a medical center to participate in a biobank. A biobank is basically a collection of DNA samples that can be accessed by multiple researchers in the institution. What was cool about this particular biobank is that  it was hooked up (in a deidentified way) to the participant’s medical record. So, researchers were able to see what medical issues developed over time, what interventions worked, etc. for this particular participant. It was a way that the researchers could have up to date clinical information in a secure and private way, without constantly bugging the research participant for an update on his/her medical history.

So, as a student, I tagged along as the research assistants attempted to recruit patients who were already getting their blood drawn for another reason, to just have one extra tube drawn, and consent for participation in the biobank. I was surprised by how many people said no. Some did not want to have an extra tube of blood taken. Some didn’t want anyone to have access to their medical information, even in a deidentified way, and some just didn’t want to participate in research altogether.

Even now, through my interaction with patients, I see the spectrum of how individuals view participating in research. I’ve had patients say, “Sure, why not?” when asked if they want to participate in research. I’ve had other patients even request that their samples be used for research, even if we are only conducting clinical testing. Then there are those that don’t trust the genetic research process and don’t want their samples or results getting in to the wrong hands. Especially when there is no direct benefit to them for participating, the choice is often to forgo participation.

Participating in research is always a personal choice, and one should never feel that they are being coerced to participate, However, I’d like to encourage you that if you are given the choice to participate in research, if participation is not a burden, then please consider doing so. This may be as simple as spending 10 minutes answering questions in Survey Monkey for a student’s thesis or dissertation research, or allowing a lab to use the remainder of your blood sample for deidentified research following a clinical test. Especially when it comes to genetic research, the only way that we will progress in our knowledge and understanding of the genetic basis of disease, genetic variation in different populations, and the effects of genetic awareness and education on the public, is if individuals from various populations participate in research. Your participation is necessary to grow the field of genetics, the understanding of our genomes, and the role of genetic testing in the public arena.


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