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Educating about BRCA: The recurring personal questions that trickle in

BRCA questions

January 2016

Reflecting on 2015, we realized that the Program for Jewish Genetic Health gave around 40 live talks over the course of the year, to a wide variety of target audiences (not to mention the online “lessons” we release on MyJewishGeneticHealth.com to a worldwide audience). In thinking about the talks I personally have given over the last few months, I realized that many times the questions come after the Q&A portion, even weeks after. Sometimes the “asker” was aware of the fact that their question was too personal in nature, other times the asker may have thought their question would seem naïve. Occasionally, the asker has been thinking for a while about the topic and comes up with an inquiry that is rather deep.

Here are two examples of recurring personal questions that I have received after my BRCA-centered talks.  As a brief review, mutations in the BRCA genes predispose women and men to developing certain kinds of cancers including breast, ovarian, pancreatic, and more. BRCA mutations can run in families and be inherited by children.  Women and men who are shown by genetic testing to carry BRCA gene mutations have options to reduce and manage their cancer risks. About 1 in 40 individuals of Ashkenazi Jewish descent are believed to carry a BRCA mutation, even if there is no significant incidence of BRCA cancers in their families.

Question 1: My grandmother had XX cancer and my aunt had XX cancer. Do you think I need to consider BRCA testing?

The answer to this one is easy—I always remind the asker that I am not a genetic counselor or a genetic healthcare provider, and I advise them that they should consider meeting with one of those professionals to discuss their family cancer history. A good online resource for finding a genetic counselor anywhere in the US and Canada is http://nsgc.org/p/cm/ld/fid=164 (make sure to search under the ‘cancer’ in ‘types of specialization’). I also advise them to try to collect as much family cancer history information (including cancer type and age of diagnosis) as possible, so that if they ultimately decide to pursue genetic testing for hereditary cancer, the most appropriate (and most current) test can be ordered based on that family history.

Question 2: Given the 1 in 40 carrier rate of BRCA mutations in Ashkenazi Jews, have you yourself gotten tested?

For a long time, the answer was no, I am just not ready. The decision to pursue genetic testing is a very personal one, and several factors need to be considered including whether the timing is right to deal with the knowledge and its implications. More recently, the tides have turned for me, in part due to two comments that reverberate in my mind and heart. The first is something one of our Program genetic counselors likes to say–“Finding out that one has a BRCA mutation doesn’t change anything about whether that mutation is there or not…finding out allows an individual to be empowered to consider available options.”  The other is a sentence from a recent New York Times piece by the author Elizabeth Wurtzel after her cancer diagnosis and ensuing surgery and chemotherapy—“I could have avoided all this if I had been tested for the BRCA mutation.”

Part of me appreciates that audience members reserve their very personal questions at the end of (and especially during :)) my talks, since usually these questions do not have generalizable value. Maybe though, in the realm of genetics and cancer prevention, every “story” has the potential for a broadly relevant take home message.

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.

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.

Genetic testing: A personal decision

right decisionAs a genetic counselor, I often get asked the dreaded question of “what would you do?” It might seem like there is one correct answer when it comes to the decision of whether or not to pursue genetic testing, but in reality, there is not. One’s decision about genetic testing (Should I pursue genetic testing at all? What type of genetic testing? How extensive should the genetic testing be? When should I pursue genetic testing?) is very dependent on one’s personal circumstances, past experiences, and attitudes.

For the past 5 years, I have consistently worked in a prenatal genetic counseling setting, among other specialty areas. Prenatal genetic counseling deals with genetic testing done during pregnancy for a variety of reasons. There are now many prenatal genetic tests which are out there and available to women during pregnancy. As a prenatal genetic counselor, I know the ins and outs of these tests like the back of my hand, have ordered and interpreted these tests for countless women and couples, and for some, I have advocated for the use of these tests, as they can often provide valuable and actionable information.

I am now almost 9 months pregnant, and even with all the knowledge I have about prenatal testing, genetic diseases, and various abnormalities which can be detected during pregnancy, my decision was to forego almost all of the genetic tests which are currently available, and instead, consistently remind myself that most babies are born healthy.

Even when additional genetic carrier screening became available in the middle of my pregnancy, I opted to wait to update my testing, in order to avoid unnecessary stress and anxiety. I will update my carrier screening at an appropriate time for me, which is not in the middle of my pregnancy.

And yet, many of my genetic counseling colleagues (since we obviously all discuss what we would do…) would choose the complete opposite route. They would do extensive prenatal genetic testing, extensive carrier screening, and want to find out as much information as possible about the genetic make-up of their baby.

Which is the “correct” decision? Well, we each make the correct decision for ourselves. Knowing myself, and knowing all of the many genetic testing options out there, the “low tech” route was correct for me. Someone else? Well, that person will need to weigh the options and figure out which route is correct for them. Genetic testing is always a personal decision. Only you can answer the “Do I want to know?”, “Will this information be helpful for me?”, “Is now the right time?”, and “How will I use this information?” types of questions in order to come to the correct answer for you.

Updating Your Carrier Screening

update carrier screening croppedWhen I was at a recent sisterhood event at my synagogue, a friend of mine approached me to ask if she should “do her genetic testing again” since she and her husband were first tested in 2007 and have not been tested since. I answered with an emphatic “YES!” I appreciated that she knew to even ask this question, but our conversation got me thinking. Do other people know that new diseases are regularly being added to the Ashkenazi  Jewish panel?

The best time to get screened is well before a pregnancy. Since the 1980s when Tay-Sachs testing was introduced to the Ashkenazi Jewish world, there has been much progress in the realm of genetic testing. Currently, we screen for about 18 diseases that are common in this population. And testing for Sephardi and Mizrahi Jews as well as Jews of mixed ancestry has become more commonplace. But someone who was tested in 2001, for example, and was negative, is not “in the clear” since many more diseases have been added to the panel since then.

Many people ask me, “If I am already married, why should I bother updating my testing? It will only make me more anxious as I continue having children.” My response is that I’d rather find out that you are both carriers of the same genetic disorder by doing a blood test, rather than finding out after you have an affected child. There are other options besides for stopping childbearing, rolling the dice with each pregnancy, and breaking up! Other family planning options include testing the fetus early in the pregnancy, using an egg or sperm donor, and adoption. In-vitro fertilization with pre-implantation genetic diagnosis (PGD) is another great alternative for couples who want to know their child’s genetic status before it is even in-utero. By doing genetic testing this early on, a couple will avoid getting pregnant with an affected embryo and will circumvent any ethical or issues related to Jewish law that may arise.  Robin’s Story, a short public service announcement on MyJewishGeneticHealth.com, will open your eyes as to the importance of updating your screening and learning your options. And be sure to register to watch Dr. Lieman’s longer webinar about PGD and Chani’s lesson about preconception carrier screening!

Finally, while testing for diseases that are common in specific populations is currently recommended by professional genetics groups, there are labs who are now offering screening for many more diseases. These expanded carrier screening panels claim to be “one size fits all” and are marketed to all ethnicities, but a negative result on a broader screening does not fully eliminate the risk of having a child affected with one of the tested disorders, it only reduces the risk. Furthermore, expanded carrier screening does not cover all diseases that could affect offspring.

I wish I could go into every synagogue, preschool, sisterhood, and other places where women in their childbearing years hang out to remind them to update their carrier screening! But since that is impossible, please take the time to mention it to your family and friends and help me spread the message. Let’s avoid heartache together!

The Law Protects My Genes?!?

DNA code analysis

We often talk about how genetic testing can help you, and the reasons that someone might want to have genetic testing done. What we don’t speak about so often is the practical (and legal) repercussions of having certain types of genetic testing. What I’m talking about here is genetic discrimination.

So here is the example. You have a genetic test and find out that you have a higher than average risk to have an aortic aneurism (which is very bad). Now, obviously we send you to a cardiologist and try to take steps to keep you healthy. But what does your employer do? What does your health insurance do?

The good news is that there are laws in place to protect you from being discriminated against due to your genetics. Different states may have unique laws in place to protect your rights. There was also a federal law passed in 2008 called the Genetics Information Non-Discrimination Act (GINA) which basically states that your health insurance and employer cannot discriminate against you based on a genetic test result.

So for example, you go to the doctor and your heart is deemed to be fine, but you have this genetic test result which indicates your increased risk for an aortic aneurism. Your health insurance cannot drop you, refuse to cover you, or raise your rates or premiums. An employer cannot refuse to hire you, fire you, pass you on a promotion, make changes to your pay, etc. based on that genetic test result.

However, this law does not protect against discrimination from life insurance or long term care insurance companies. (Granted, if you already have an aortic aneurism, that will probably trump the genetic test result.) However, it is definitely important to consider, especially for those who are pre-symptomatic. We often bring this up in our cancer genetic counseling sessions, especially for those who have not had cancer, but are at risk to have a BRCA mutation based on family history. The decision and timing of when to pursue genetic testing sometimes takes in to account purchasing or updating long term care insurance and life insurance policies.

For more resources on GINA, you can visit the Genetics and Public Policy Center and check out this very helpful compilation by the Human Genome Project.

 

You’re a Genetic Counselor?

Genetic CounselorI’ve always been aware that most people have no idea what I do.  But recently, I’ve discovered a new misconception and view of what a genetic counselor does, and it’s one which I think is worthwhile discussing.

I have recently interacted with a number of people who have expressed the same sentiment; I don’t need counseling so therefore I do not need to meet with a genetic counselor. “My child has a genetic disease, but I don’t need counseling”, “I just need to get my blood drawn for a genetic test, I don’t need counseling”, and most recently, “I don’t need to meet with a therapist, I just spoke with that genetic counselor”. These statements indicate a misunderstanding of what a genetic counselor actually does. You see, genetic counselors don’t do counseling.

Ok, that’s a bit misleading. We do speak with people, and often use counseling techniques in our sessions, most often decision-oriented counseling, crisis counseling, and other psychosocial techniques. Genetic counselors do have training in psychosocial counseling as part of their graduate training, however, any issue which is significant enough to necessitate counseling, should be handled by an actual counselor (therapist, social worker, psychologist, psychiatrist, etc.). I frequently refer patients to speak with therapists about various issues that come up in a genetic counseling session.

So what do genetic counselors do? Well, it’s going to be different in every session. However, the essence includes reviewing one’s medical and family history, family history risk assessment, discussing the features and inheritance of various genetic diseases, identifying appropriate genetic testing, and explaining the risks, benefits, and limitations of that testing, interpreting and explaining the significance of genetic test results, and identifying resources for the patient or family. I often see myself as a patient educator and a patient advocate.

This consultation is important for a number of reasons.

1-      Genetic tests are very specialized. I’ve said this before, but there is no one “catch all” genetic test. If you need genetic testing, it’s the genetic counselor’s role to make sure the correct test is being ordered.

2-      You need to provide informed consent when a genetic test is being done. This means that prior to having a genetic test done, you need to understand the risks, benefits, and limitations of that testing. All of those things are explained in a genetic counseling session, and informed consent is obtained.

3-      Interpretation of genetic test results is complicated and must be done in the context of personal and family history. This is what genetic counselors are trained to do!

4-      Pursuing genetic testing is always YOUR choice. Often there are even multiple testing options in front of you. It’s always up to you to decide if you want to do testing, and what testing you want to do. Genetic counselors specialize in helping people make the best decisions for themselves.

So is the name genetic counselor deterring people from meeting with us? Should the name be changed to a genetic consultant?

To learn more about genetic counseling, visit the NSGC (National Society of Genetic Counselors) website at www.nsgc.org

 

Back to the Swing of Things

swingWelcome back! Summer vacations have come to an end, we’ve passed the Labor Day mark, school is back in session, and we’ve reached the never ending season of Jewish holidays. We’re finally (almost) back to regular swing of things.

Here at the Program for Jewish Genetic Health, we’re also really excited about kicking off the New Year. We recently reflected on some of the projects we’ve been working on, and have realized that we have quite a bit to be proud of!

We’ve been trying to spread information and education about genetics and how it impacts the Jewish community. This past January, Estie wrote an article for the Jewish Press  talking about the importance of preconception carrier screening, and just this past August, she wrote another article explaining the importance and utility of genetic counseling. I wrote an article which appeared in the Jewish Press about BRCA related hereditary cancers and the usefulness of genetic testing.

Over the past year, we launched our GeneSights online education platform, as well as three lessons; Genetics 101, Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA1), and Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Our next lesson:  Preconception Carrier Screening: Tay Sachs and many other diseases, has already been filmed, and we’re planning to launch it this October or November!

We’ve given numerous in-person talks and educational events in and around the NY area as well as in Memphis, TN, Chicago, IL, and Phoenix, AZ. In addition to community education, we’ve focused on educating Rabbis, community leaders, and healthcare providers about some of these important issues. We have a number of new educational events scheduled and in the works for the upcoming year!

Aside from being able to help coordinate carrier screening at our clinical offices at Montefiore, we’ve also held a community screen this year at Columbia University. Our annual community screen for Stern College, YU, and the Mount Sinai Washington Heights community is coming up soon, and will be on November 10th, 2013 (hope to see you there!).

To me, the fall has always felt like a time of new beginnings. As I child, I loved going back to school, learning new things, and getting a fresh new start. Here at the Program for Jewish Genetic Health we have lots of new and exciting projects in the works. We’re hoping that this upcoming year will be a fantastic one for our PJGH family, and for yours.

(And to get back on my soap-box for one more minute, as I’ve done now on numerous occasions, I’ll remind you to find out more about your family medical history. If you’ll be with family over the holidays, use this opportunity to speak with them and gather this important and potentially lifesaving information!)

August is “SMA Awareness Month”

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In an attempt to express interest in my career, my husband likes to send me interesting links to news stories and videos that relate to genetics. He likes even more to send me links to his fantasy baseball players’ accomplishments. This week was his crowning achievement, as he sent me one that combined genetics and baseball. It was a video and article from ESPN.com about a 6 year old boy and his twin sister, both of whom have spinal muscular atrophy (SMA). The boy’s dream was to play for the Arizona Diamondbacks. The video is incredible and is a real tear-jerker!

If you or your partner has been pregnant in the past few years, you might have heard of SMA since your OB/GYN may have offered you genetic testing for this condition. SMA is an inherited disease of the motor nerves that causes muscle weakness and atrophy (wasting). Motor nerves arise from the spinal cord and control the muscles that are used for activities such as breathing, crawling, walking, head and neck control, and swallowing. So if the motor nerves are not working properly, these bodily functions are compromised.  In his book “Genetic Rounds,” pediatric geneticist Dr. Robert Marion (Einstein) describes SMA as “the childhood equivalent of the better-known, but also poorly understood, amyotrophic lateral sclerosis, more commonly known as Lou Gehrig’s disease…” (pgs 85-86). SMA is a rare disorder occurring in approximately 8 out of every 100,000 live births, and is the leading cause of infant death. There are four types of SMA, which range from lethal in infancy to a less severe form that develops in adulthood.

Like other Ashkenazi Jewish diseases we have talked about on this blog, SMA is inherited in an autosomal recessive pattern. So if both parents in a couple are carriers of SMA, there is a 1 in 4 chance for them to have a child who is affected.

The reason many OB/GYNs order SMA testing is because in 2008, the American College of Medical Genetics and Genomics came out with a Practice Guideline that said: “Because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity.” Recent studies have shown that the carrier frequency is about 1 in 56 in the general population, and about 1 in 67 in the Ashkenazi Jewish population.

If you look at our current panel of diseases for screening our Ashkenazi patients, you will see that based on carrier frequency, SMA is actually more common than many of the other diseases on the panel. I would like to point out that even though it is more common, SMA does not fall under the category of “Ashkenazi Jewish genetic diseases.” This is because those conditions have known “founder mutations,” or genetic changes that are frequent in that specific population. SMA mutations are common in ALL populations, not just in Ashkenazi Jews. Since we often see patients who come for Ashkenazi testing before a pregnancy, we recommend that they also get screened for SMA at the same time. This is also true for the Sephardic and non-Jewish patients we see.

August is “SMA Awareness Month.” To learn more about SMA and the research initiatives to treat it, go online to the SMA Foundation website.  Personally, I am made aware of SMA every day since my neighbor is affected with type II SMA and I see her playing outside in her wheelchair all the time. But for those of you who do not know anyone who is affected, try to become aware that this condition exists. Make sure to get screened before a pregnancy or early into one, and spread the word to your child-bearing friends and family. You could really make the difference!

Angelina Jolie’s Disclosure: Perspectives from a 20 Year Old

Guest Blogger, Elana Bengualid, writes about her thoughts on the “Angelina Effect“:iStock_000020400344Small (1)

Angelina Jolie is one of the world’s most prominent actresses, and is also a statistic of the 1 in 500- 1 in 800 people who have an increased risk of developing breast and/or ovarian cancer due to a mutation in the BRCA1 or BRCA2 gene. Therefore, when she valiantly shared her story with the public it undoubtedly created an immediate medical and cultural phenomenon.

It is evident that Jolie has inspired many to be proactive about their genetic health as the labs that test for the hereditary breast and ovarian cancer mutations have experienced a dramatic increase in the demand of test orders since her story was published in The New York Times in May. Most notably, Jolie’s decision to undergo a double mastectomy consequently led to about 250,000 Google searches on the prophylactic surgery in just one day, greater than the amount of people who will be diagnosed with breast cancer each year. Jolie’s story is empowering for she was courageous in taking appropriate steps to decrease her risk of breast cancer from 87% to about 5%, and through her journey she was able to change the image of this somewhat daunting process by exuding confidence, and becoming a public example which others can emulate.

However, at what age should one confront this information? How will Jolie’s actions influence young men and women who have similar family histories of breast and ovarian cancer? It is important to note that genetic counselors do not normally recommend that a person get tested before the age of 25. Recommendations for screening and preventative surgeries for high risk start at the age of 25, for the patients would not be able to do anything with the information except process and share it with family a member (which is important too!).

As a summer intern for the Program for Jewish Genetic Health, I was privileged to able to shadow the genetic counselors. One of the cases I observed was counseling for a 23 year old woman whose mother had passed away from breast cancer at age 39. The patient had been waiting to get tested for the BRCA mutation since her mother’s diagnosis, four years prior. Although young for testing, the patient was mature and her determination to confront this situation with the utmost diligence was admirable. Seeing the strength with which this young woman, three years older than I, pursued genetic counseling was inspiring. She was empowered to be proactive about her health, and that unwavering resolve is a quality that everyone, no matter what the situation, can learn from.

Personally, I do feel that it is extremely important to know if an individual is a BRCA mutation carrier not only for that person’s health, but also for their family members’ health. Regardless of what is considered the “right” age by medical professionals, certain individuals may be emotionally and psychologically ready to undergo testing at an earlier age. For these young women, it is amazing to have a public figure like Angelina Jolie serve as a role model and give them someone to relate to who has already experienced this, and persevered with grace.

Elana is a summer intern for the Program for Jewish Genetic Health. She is a junior at Barnard College and is majoring in Spanish and Latin American Cultures. 

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