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Who You Gonna Call?

genetics bat phoneHere at the Program for Jewish Genetic Health, we do not have a formal “genetics hotline”, but we get more than our fair share of phone calls with people asking for direction or advice related to genetics and genetic testing issues in their families. We get to hear from people from all over the world and are often surprised and intrigued at how many new and interesting questions come up, including questions related to shidduchim (matchmaking and dating), genetic testing and halacha (Jewish law), and referrals to genetics specialists.  While we try our best to provide a sympathetic ear and help as best we can, sometimes my compassion gets stretched to the limit. Since I believe so strongly in the utility of genetic counseling, I find it hard to keep my cool when the caller tries to convince me that they know better or that they can navigate the genetics scene by themselves (because, really, if he/she could, why would they be calling me for help?).

Here is one representative example of a call we have fielded:

Caller: “My child had this genetic testing done, and now we’re trying to figure out how to test ourselves and what the next steps are.”

Ok. Sounds reasonable.

Me: “Who did the genetic testing for your child?”

Caller: “Our pediatrician.”

 Not ideal, but it was ordered by a physician. Let’s get a bit more information so I can figure out the next best steps.

Me: “Are you going to meet with a genetic counselor or geneticist?”

Caller: “No, we haven’t gotten that far yet.”

Hmmm ok.

Me: “How did your pediatrician decide to order that test?”

Caller: “We asked him to write the prescription, so he did, and we brought it to the lab and had the test done.”

Me: “How did you guys come up with the idea to do that genetic test?”

Caller: “Well, my child has XYZ issue and we’ve been looking into nutritional therapies, and this specific test was recommended by a member of a wellness nutrition group on Facebook..”

……..    …………   !?!?!?!?!?!?!?!?!?!?

Especially with all the hype out there about genetics and the future of medicine, it is totally understandable for parents to turn to genetics and genetic testing to try and better understand medical issues in their families and figure out more effective treatments. And in many areas of genetics, we are actually very good at doing just that! However, the DIY approach may not be the best approach, especially when the genetic testing needed is more complex and may require testing multiple genes.

Trained genetic counselors and geneticists are here for a reason! We are your friends! We are your guides to the big wide world of genetics and genetic testing. Genetic counselors are actually trained to look at your personal medical and family history and determine which genetic tests are most appropriate, coordinate testing, work through insurance coverage issues, and then explain the results when they come back. That is our WHOLE job (ok, fine, genetic counselors often do much more than this). PLEASE USE US AS A RESOURCE!  (We are here to help healthcare providers and patients alike!)

In the end, I just felt bad for this family. The parents were clearly trying to figure out the best way to care for their child- but they were trying to do it alone, without the guidance of trained genetics professionals who could have helped guide them to the right tests, and spared them some anxiety and worry in the process.

As genetics becomes further integrated into medical care, the need for access to trained professionals who can help interpret and incorporate genetic testing and genetic testing results into care continues to increase.  There are more than 4,000 certified genetic counselors in the U.S., and our numbers and impact continue to grow! Genetic counselors are your best resource to navigate the genetic testing maze which currently exists for the public, but we can only help if you involve us in the process.

You can find a local genetic counselor by visiting www.NSGC.org and using the “Find a Genetic Counselor” tool.

 

When TV and genetics meet: Reflections on Grey’s Anatomy and BRCA

dna tvGuest Blogger, Allison Grant, reflects on the difficult decisions patients face following the identification of a BRCA mutation. 

In the middle of January I began watching, or as I will shamelessly admit, re-watching, the television series, Grey’s Anatomy. After being wooed by the drama and attractive doctors during my first time watching, I was able to focus more on the “medicine” and on medical ethics the second time around. To my surprise and delight, an episode in season two, Let It Be, closely followed the case of a woman named Savvy who was found to carry a BRCA mutation. Although Savvy did not have cancer, she had seen ovarian cancer take the lives of her mother, sister, and cousin. Savvy and her husband traveled to Seattle to seek advice from their close friends and doctors, the Shepherds, and to decide whether or not to move forward with surgery. Although her husband disagreed, Savvy eventually opted to have a bilateral prophylactic mastectomy, oopherectomy, and hysterectomy (removing both breasts, ovaries, and the uterus). The decision was not made lightly, and was made only after considering all of the statistics, risks, and consulting with appropriate health care professionals, including a genetic counselor.

I applaud Shonda Rhimes for writing and producing this episode in a medically accurate way that, in my opinion, also did a great job of showcasing how a critical medical decision such as this one impacts interpersonal interactions and relationships. Different opinions, and the subsequent social and emotional interpersonal hardships that result, were presented through Savvy’s relationship with her husband, as well as with one of her doctors.

As I was watching this episode I was pained by the stress felt by Savvy, the tension that it created in her marriage, and the difficult anticipation of the life-altering surgeries she was about to endure. For a few seconds I questioned my unwavering belief that knowledge is power. If Savvy had not known about her BRCA mutation, she would not have been facing difficult decisions and these hardships (a fact that some people believe argues against genetic testing in the absence of compelling risk). But I took a step back and looked at this case from a wider perspective, and apparently so did Shonda Rhimes. Personally, I do believe that, in most situations (including this one), knowledge is power. I believe that medical education and awareness about one’s own health are critical components to leading a healthy life. To turn a blind eye when science is offering a chance to proactively enhance one’s health and life expectancy is a private choice, but one that I would argue is made out of fear and a lack of understanding of the risks that can be avoided with the benefit of crucial, and now available, medical information. This sentiment guided Savvy’s experience. After meeting with her gynecologist and genetic counselor, she became empowered to take charge of her health and made an informed decision that she felt was best. In reflecting on her decision she states, “I know what I’m losing. I get it. But think about what I’m gaining. My life. This gives me a shot.”

That is why I love my job–why I love working with professionals trained in genetics, who promote the sentiment that knowledge is power. We give people a shot.

Allison Grant is currently the study coordinator for the Program for Jewish Genetic Health‘s BRCAcommunity Study. She will be attending medical school in the fall. Learn more about BRCA testing at BRCAcommunity.com

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.

Finally! A Genetic Test for Sephardi and Mizrahis Too

DNA code analysis

For years, when we got inquiries from Sephardi or Mizrahi patients about preconception genetic testing, we would respond that there is currently no testing panel as there is for our Ashkenazi patients. And we would feel bad about that because we know that, like in many other ethnicities, there are genetic diseases which are common in Sephardi and Mizrahi populations too.

When we hosted a genetic testing event at Yeshiva University in 2013, our flyer included a call-out to the Sephardi students to contact us privately and not to register for the event. Turns out, 22 interested students were disqualified from the event, and I have no idea how many actually called us to come in for private counseling and testing. My guess is zero.

Since the genetics for Sephardi and Mizrahi Jews differ by country of origin (and there many countries with Jews), genetics labs never really made it a priority to develop testing panels. After all, why should they develop tests that a tiny number of people will actually need? So we were left between a rock and a hard place; on the one hand, we encourage people to get tested for diseases common to individuals of their ethnicity, but on the other hand, we are unable to order any testing. We were essentially pushing a product we didn’t have.

This all changed about a month ago, when we started offering a new panel that was developed for Jews of all backgrounds. This new panel is made of 96 diseases; 48 of them are common in Ashkenazis, 38 in Sephardi/Mizrahis, and 10 overlap between the groups (it is a very large panel!). Here are some of the things that we have been finding since we upgraded:

  • People think they know what their ancestry is, but are surprised to find out they may be more mixed than they thought. A patient of ours could have sworn he was 100% Ashkenazi, but he came back as carrier for a disease that is common in Yemenite Jews. When he asked his grandmother if there was something he didn’t know, he learned that he had some North African ancestors!
  • The more diseases we screen for, the more likely someone will be a carrier. We used to say that about 1 in 3 people will screen positive for something. But so far, I think we have only had one patient who was not a carrier of anything on the panel. And of course, being a carrier, in general has no effect on one’s health and should not be considered a stigma.
  • Even though we have tripled the amount of diseases on our testing panel, the ‘classic’ Jewish diseases are still ‘classic.’ I would have thought that the more diseases we screen for, we would see a wider array of results, but we have been seeing that those diseases that have been on the panel since the beginning (the common ones, like Tay Sachs and Gaucher) are still the ones that we have been picking up most often.
  • We have  had a Jewish history lesson for our genetic counselors helping them understand the different migrations of Jews over the course of history, and how ‘Ashkenazi’, ‘Sephardi’, and ‘Mizrahi’ Jews came to be.

The bottom line is that carrier screening is recommended before contemplating a pregnancy for anyone that is at least ¼ Jewish. It doesn’t make a difference if one has mixed ancestry, if he/she knows that a relative tested negative in the past, or if he/she chooses to affiliate with a movement within Judaism. Our genes do not choose to be transmitted only to the “more Jewish” people. Most of the diseases on the panel are a burden on the affected person and the family and testing a couple before a pregnancy is one of the best preventative actions one can take to avoid heartache. Visit PJGHtesting.com to learn more about the testing.

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 www.nsgc.org.

Breast Awareness and Breast Cancer Awareness Month

Breast_Cancer_Awareness_MonthA few weeks ago, I saw a woman for genetic counseling. She was in her early 60s, and had been diagnosed with breast cancer twice in the same breast. The first time was in her 30s, the second time was within the past few months. Before starting to review her family history, I asked her about her prior cancer diagnoses. This recent cancer diagnosis was identified on a routine mammogram, but her first diagnosis would have been before she started routine breast screening via mammography. “How did you find it?” I asked…

She then proceeded to tell me the following story: “Well, you see. I got this pamphlet in the mail with instructions on how to do a breast self exam. I had never done one before. And usually, I would throw these things out, but I figured, sure, why not? And I took the pamphlet with me into my bedroom, followed the instructions, and did a breast self exam. And I felt something. So I went to my doctor and told her that I had felt something in my breast. She said, “don’t tell me where you felt it, let me try to find it myself.” So she did a breast exam and she didn’t feel anything. So she had me show her where I felt it, and sure enough she said, ‘you know, I do feel something there. I’m sending you for a biopsy.’ And that’s how they found my first breast cancer. That pamphlet saved my life. I wouldn’t be around today if it wasn’t for that..”

In the last few years, there have been a number of controversies over the best route for breast screening. Should routine mammograms begin at age 40 or at age 50? Should women have clinical breast exams performed by their physician, and if so, how often? Should women perform self breast exams at all? As more research is being done in the realm of breast screening, different opinions have been emerging as to the efficacy of these different screening methods.

One of the interesting shifts has been away from the breast self exam in favor of breast self awareness. The idea behind breast self awareness is that a woman should be aware of how her breasts normally look and feel, so that she can report any changes to her doctor. This differs from the breast self exam, which is a structured procedure of how women should be evaluating their breasts on a regular basis. Many women feel uncomfortable doing a breast self exam, unsure of what they should be looking for. Research found that not only did breast self exams not reduce the number of deaths from breast cancer, but it actually increased the detection of non-cancerous lesions, which required further evaluation, such as a breast biopsy. This research has contributed to the change in recommendations away from self breast exams and toward self breast awareness.

But then I think about the countless stories that I have heard of women, including my patient, who found their own breast cancer by doing a breast self exam. I hear her words echoing back, “That pamphlet saved my life. I wouldn’t be around today if it wasn’t for that…” and I wonder how she would feel about the change in recommendations.

For those of us with friends or family members who have been diagnosed with breast cancer, or with personal diagnoses of breast cancer ourselves, National Breast Cancer Awareness Month can feel empowering, overwhelming, or even stifling. And with the statistic of 1 in 8 women developing breast cancer in the United States, breast cancer is a disease that should feel relevant, even if one does not have a “personal connection” so to speak. Perhaps for all those who don’t see the relevance, they can think of this October as Breast Awareness Month, and instead of focusing on this disease they can focus on the breast awareness which might someday save their lives.

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.

Insurance Coverage and Genetic Testing: Part 3

Image courtesy of http://401kcalculator.org

Image courtesy of http://401kcalculator.org

Before I move on to other (and potentially more interesting) topics to blog about, there are just a few more important things related to genetic testing insurance coverage which are worthwhile discussing. Remember that this insurance terminology dictionary should be helpful for other topics which I don’t discuss here.

I’ve mentioned before how expensive genetic testing can be. Depending on the test, and what technology is being used, each separate genetic test could cost up to a few thousand dollars. When multiple genetic tests are being done, this can rapidly add up. Your insurance company knows this and therefore, has very specific criteria which govern when they will cover genetic testing.

This post is mostly about insurance preauthorization (“pre-auth”). This is otherwise known as a prior authorization, precertification, or predetermination. Different insurance companies may have different names for this process, but the gist is usually the same. This is a process that you or your healthcare provider initiates with your insurance company whereby you ask them to determine if they will pay for a specific service (in our case, genetic testing). Often times, your insurance company will require that you go through the preauthorization process before you pursue genetic testing.

So what is involved in a preauthorization? The insurance company will request that you give them a lot of information about the genetic testing which is being done.  They will want the name of the lab which is actually performing your testing, the name of the doctor ordering your testing, and all of the applicable identification numbers, certification numbers, and contact information associated with your doctor, and the genetics lab.

Then, they’ll want to know where the genetic test is being done and exactly which test will be ordered. It is important to understand that when you do a pre-auth, you cannot rely on the insurance agent involved in your case to know about each and every test that exists. Just saying “a genetic test” or even “a genetic test for cystic fibrosis” will not be enough information for them. This is because there may be multiple genetic tests available for cystic fibrosis, each with its own testing methodology and precision (and therefore price!). Each genetic test actually had a code (or sometimes multiple codes) which identifies it to the insurance company and explains to them what exactly is being done. These codes are called CPT codes and you can get the precise CPT codes you need from the lab performing the test.

The next piece of information the insurance company needs is the indication for your testing, which is also provided in the form of a code called an ICD-9 code. ICD-9 codes vary from broad to specific; some examples include “family history of breast cancer” as an indication for BRCA testing and “café au lait spots” as the reason for ordering genetic testing for neurofibromatosis type 1. ICD-9 codes are important to the insurance companies because they are used to determine if the genetic testing is appropriate for you. You (or your doctor) cannot order a genetic test just because you want it done, and expect your insurance to cover it.

Finally, once this preauthorization has been started, your insurance company will want clinical information. This may be in the form of medical records, imaging studies, or pedigrees, or they may request that a letter of medical necessity be submitted by your healthcare provider. A letter of medical necessity is basically a document written by your healthcare provider that explains their argument for why the insurance company should pay for your testing. Often times it not only includes information about your medical history, but also information about how the testing will be helpful for your future care, and specifically what might change in your medical care based on this testing. It might even cite recent medical literature where genetic testing has made a major difference in situations similar to yours.

The insurance preauthorization process can take anywhere from weeks to months, depending on your insurance company. And even if the preauthorization is approved, it is never a guarantee that your testing will be covered. If the preauthorization is “denied” there is often an appeals process that you can go through to try and change their minds.

So you can see that the process is quite complex and time consuming. Physicians and genetic counselors have a lot of experience with pre-auths, so do not be shy to ask for help if you are overwhelmed with the process!

Genetic Testing at Birth-Is it too Early?

 

UntitledI recently saw a 50-something year old man for a cancer genetic counseling session. When we got to the concept that mutations in the BRCA genes may increase someone’s risk to develop breast and/or ovarian cancer, he was amazed. He said to me, “If the technology exists for someone to know his or her genetic risk to develop cancer, and there may be something to do to reduce these risks, wouldn’t it make sense to learn this information when someone is young?”

I was pleased to hear this question since it proved to me that he was really paying attention, and although he didn’t realize it, he touched on an issue which is very timely in the world of genetics and ethics.  The issue of whole genome sequencing (reading through all of someone’s genes to look for variation) is a hot topic in genetics. Currently, the reasons we might order any genetic testing are if there is an underlying medical issue for the individual, a family history of an issue, or if someone is from an ethnic group that has known founder mutations for particular diseases. When we do this sort of testing, we are looking for relevant mutations in one or more genes or chromosomes.

But recently, scientists have introduced the notion of testing the entire genome of all newborns-even those who are seemingly healthy. (Note: I am not talking about the Newborn Screening panel—AKA “heel stick test” or “PKU test”—which is mandatory in the United States, and tests for about 30-55 diseases, depending on the state).  And to make things sound even more exciting, the first baby to ever have his genome sequenced prenatally was born last month in California!

Back in November 2012, Nicole blogged about her discomfort of whole genome testing, as opposed to targeting the genetic testing to the medical issue at hand.  When we do whole genome sequencing, we are going to learn about that person’s traits, carrier status, predispositions to childhood and adult-onset disease,  and we may even diagnose a disease, possibly presymptomatically (ie- before the person even starts exhibiting symptoms). Some might think that all this information is great, since it’s better to know now than to be surprised when it happens.

Others believe that this type of testing for newborns is unethical. Here are a couple of reasons why:

1-The genes belong to the child, not the parents. Shouldn’t it be up to that child to make this decision?

2- Say we learn that the child is genetically predisposed to having Parkinson’s disease. This most likely will not happen for another 50 or so years, and it may never happen at all.  Does he want to be that person who is just waiting to get sick? This may cause anxiety, stigma, and may change the way his family and friends perceives him.

3- If someone learns from a young age that he has a genetic predisposition to a condition, he may ignore the other (non-genetic) risk factors. For example, let’s say someone learns that he has a genetic variant that leads to a high chance of developing diabetes. He may not try to eat healthy foods or exercise or go for checkups because he believes that his genes alone will determine his risk for diabetes. This is what we call “genetic determinism.”

I told my patient that he did not realize that he had opened up a can of worms and that we would need a whole new session just to discuss his question. But he definitely got me thinking.

 

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