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.

An unexpected source of light in the Chanukah season

menorah with 8 armsI spent last Wednesday morning attending a conference on Rett Syndrome at Einstein. Let me start this blog by saying that Rett Syndrome is not a “Jewish genetic disease.” In brief, it is a neuro-developmental disorder that primarily affects girls, in which they start to develop normally but then lose motor functions and also develop seizures, cognitive disability, and a host of other symptoms (learn more about Rett Syndrome here). Rett Syndrome is caused by mutations in the MECP2 gene which is located on the X chromosome.   A friend of mine asked me what prompted me to attend this specific conference, given my current focus on Jewish genetics. I told him that I love to learn, I was impressed by the lineup of clinical and scientific expert speakers, and I knew that a lot of the Einstein genetics people would be in the room. In the end, these factors paled in comparison to what left the biggest impression on me that day—the presentation by Monica Coenraads, whose teenage daughter Chelsea is affected by Rett Syndrome.

Monica began her presentation by showing home-video footage of Chelsea’s first four years.  During the first year, there were the typical clips of first smiles, first solid foods, first rolling over.   After that…the realization that milestones were not being met, Chelsea’s developmental regression, the search for a diagnosis, the fear of that diagnosis, and then the adjustment to living with the diagnosis.  Monica’s presentation continued with an eloquent overview of the syndrome, in which she interposed videos of Chelsea manifesting many of the symptoms.  She also showed Chelsea’s educational and therapeutic support teams, and a massive amount of Chelsea’s specialized equipment and furniture.  It was clear that Monica has not left one stone unturned in her care and support of Chelsea, in the context of her entire family (and she even brought the whole audience to tears as she described how Chelsea was able to express, with the help of a communication device, that she wanted to attend a prom and then was able to do so escorted by her brother).  On top of all this, Monica has made a huge impact on the global Rett syndrome scene, in part by establishing two foundations that fund research for Rett syndrome treatments and cures.

Several of the scientists who presented at the conference specified that Monica Coenraads motivates them in their research endeavors and prompts them to push their creative limits further.  From the brief encounter I had with Monica (i.e., watching her powerpoint presentation in a dark auditorium), I see Monica as a source of light.  Monica and other parents of children with disabilities and genetic diseases restructure their expectations, perspectives, and daily lives because of these children.  Sometimes it takes people like Monica to help us parents re-calibrate with respect to what think we can/cannot handle and also re-invigorate for new undertakings.

May the spirit of Chanukah give strength to parents and caregivers like Monica, as well as shed light upon research efforts aimed at finding cures.

Egg Freezing-Now a Job Perk?

8886048502_44698ab556_zBig companies, such as Apple and Facebook, have recently announced that their female employees would be offered free “egg freezing.” The idea behind the process of egg freezing, or oocyte cryopreservation, is that a woman who is not ready to have children may freeze her eggs and later re-implant them in her uterus via an in vitro-fertilization process when she is ready for children.  Freezing eggs puts a halt on their biological activity and, literally, ‘freezes them in time.’

A woman’s eggs stay with her from pre-birth until menopause, so just like we get older, so do our eggs. Our eggs don’t gray and wrinkle, but they certainly age; and the aging process may cause serious issues in the chromosomes of the eggs. You have probably heard that the risk for Down syndrome (a condition caused by having an extra chromosome 21) is increased in older moms. That is because their older eggs are more prone to having errors in meiosis, the process of chromosome division.

The cost of egg freezing nears $10,000 for every round, plus $500 or more annually for storage. It seems like these large companies are finding that losing their valuable employees to maternity leave and family time is detrimental, and that women should feel encouraged to plan out the lives they want if they want to get set on their careers first. Not surprisingly, there has been a lot of buzz around these announcements from Apple and Facebook, ranging from full support to skepticism of using egg freezing for non-medical purposes (one particular piece I enjoyed reading was an op-ed in the New York Times from a few weeks ago).

While career building may be a valid motive to freeze eggs, there are other reasons a woman may consider this process. I have been asked whether egg freezing would be a good option from some women who have not yet met the man with whom they want to build a family, in case they do not get a chance to start their family until they are older. There are also medical reasons a woman may decide to freeze her eggs. For example, women who undergo cancer treatment which may be toxic to their eggs may decide to preserve their eggs before they begin their therapy.  In addition, women facing certain genetic conditions that lead to premature failure of ovarian function may also choose to freeze their eggs–some examples include those with Turner syndrome or fragile X premutation carriers. In addition, women who are BRCA carriers may opt to remove their ovaries to reduce their risk of developing breast and ovarian cancer, but may not be ready to have children. These women could freeze their eggs for a later pregnancy.

Of course I also need to mention that older women who are having babies (whether or not the eggs have been cryopreserved) tend to have older spouses. Because of the large number of cell divisions in spermatogenesis, the process of sperm development, the mutation rate in certain genes is higher in men than women, and increases with age. So we are finding that certain genetic diseases are more common in babies with older dads as well. Such diseases include certain forms of dwarfism, some types of craniofacial disorders, and some more complex diseases such as autism, schizophrenia and cancers.

The American Society for Reproductive Medicine does not recommend the use of egg freezing for purposes of delaying childbearing, since data on safety, the efficacy, and the cost-effectiveness, and emotional risks are insufficient. They say that “marketing this technology for the purpose of deferring childbearing may give women false hope and encourage women to delay childbearing.” Nevertheless, egg freezing for career reasons is a reality. But should it be?

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.

BRCA testing for all Jews? BRCA testing for everyone?

news 2Co-written by PJGH genetic counselors Estie Rose and Chani Wiesman

This week was a very busy and exciting week for us at the Program for Jewish Genetic Health (PJGH)!  Late last week, the New York Times published two articles describing the findings and ramifications of published research conducted by renowned geneticists in the US and Israel. The first article describes a study done by Dr. Ephrat Levy-Lahad at Shaare Zedek hospital, who concluded that ALL Ashkenazi (Eastern European) Jewish individuals should be tested for BRCA mutations—not just those individuals with family histories of breast and/or ovarian cancers. Since about 1 in 40 Ashkenazis will carry a cancer-predisposing BRCA mutation, genetic testing was suggested for everyone at a young age.  Then, in case a mutation is present, it is better to find out at a preventable stage.

The second article quotes the scientist who discovered BRCA’s association with cancer and who partnered on the Israeli study, Dr. Mary –Claire King. Dr. King’s statements took this one step further, as she called for screening all American woman 30 or older regardless of race or ethnic background—not just Ashkenazis!

Our inboxes have been flooded and the phones have been ringing all week with inquires about these articles.  So how do we feel about these statements? If you have been listening to the news, the media made it sound like these are new ‘guidelines’ or ‘recommendations,’ but we prefer the word ‘opinions.’ These opinions come from a good place, where people want to prevent illness, but they are also somewhat controversial and may be considered by some to be extreme.

For starters, we think it is important to take a step back and spell out what’s so important about BRCA in the Jewish community.  After that, we will get to the “PJGH response” to these studies.

We have spoken about BRCA many (many, many!) times in this blog, but we never actually told you why it is related to the Jewish community (our oversight!). BRCA1 and BRCA2 mutations (mistakes in the genes) cause a significantly increased risk for breast and ovarian cancer, as well as some other cancers.  Just like there are certain mutations for other diseases that are more common in the Ashkenazi Jewish population, there are three specific mutations in the BRCA genes that are more commonly found in the Ashkenazi Jewish population. Numerous studies have found that between 1 in 40 and 1 in 100 Ashkenazi Jews will carry one of those three BRCA mutations and are therefore likely at an increased risk for cancer. If someone is Ashkenazi Jewish and has a BRCA mutation, the vast majority of the time, it is one of those three mutations. Furthermore, that 1 in 40 – 1 in 100 carrier frequency holds true regardless of personal or family history of cancer. So if you take any random group of 100 Ashkenazi Jews, 1 or 2 of them is likely to carry a BRCA mutation, even if he/she doesn’t have a personal or family history of cancer.

This is a big deal, and it’s a huge community issue.

So what is our current response?

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.

 

Insurance Coverage and Genetic Testing: Part 2

image courtesy of www.stockmonkeys.com

(image courtesy of http://www.stockmonkeys.com)

“My insurance said that the testing would be covered, so how did I end up getting a bill?”

Although I alluded to some of these issues in a previous post on the subject, I figured it would be worthwhile to spend a bit more time discussing some of the ins and outs related to health insurance coverage for genetic testing and genetic services. A Carnegie Mellon University study published in September 2013 found that 86 percent of Americans between the ages of 25 and 64 didn’t understand the fundamental concepts of any kind of health insurance. While I won’t be explaining all concepts related to health insurance, an insurance terminology dictionary can be helpful if you have additional questions which I don’t address here. And remember, insurance companies tend to have many different plans with different terms, so just because your plan is from Aetna or Cigna, you might have different benefits and financial responsibilities than others who use the same insurance company.

When it comes to your health insurance coverage, even though you pay monthly premiums, (ie. your monthly cost to have health insurance), you may still have other financial responsibilities whenever you receive medical services. Some of the most common financial responsibilities are co-pays, coinsurance, and deductibles.

The co-pay is typically the most understood concept, as it is fairly straightforward. Whenever you have a doctor’s visit or other medical service provided, you pay an amount which was previously set by your insurance company. This is usually somewhere between $10 – $50 depending on your specific policy and the type of services being provided.

However, some insurance companies expect you to pay a certain percentage of each visit cost. This is called a co-insurance, and it is typically represented as a percentage, as in, your co-insurance is 20%, which would mean that when you go to the doctor or have other medical services provided, you are responsible to pay 20% of what those services cost, while your insurance will cover the other 80%. Again, the specific percentage co-insurance that you are responsible for will vary based on your insurance company and plan.

Your deductible is basically the amount of money you need to pay towards your medical care before your insurance starts paying. This is often a very confusing concept for people to understand. So basically, you’ve just paid $500 per month for health insurance (for example) and you go to the doctor’s office, and you get a bill for the full cost of the visit! Isn’t that why you paid all that money for health insurance, so that the health insurance would pay for your doctor visits?? The answer is obviously yes, however, depending on your insurance policy, you may have a deductible and sometimes, they can be very high! If for example your deductible is $2,000, that means that you need to pay out of pocket, for the first $2,000 of your medical care (doctors visits, lab tests, etc). Once you pay that $2,000, then your insurance will start paying for your medical services, under the terms of your plan, ie- you may need to pay the $2,000 towards your own medical care, and then once your deductible is met, since you have a 20% co-insurance, so your insurance company will cover only 80% of the cost of services you receive.

So when you come in for genetic testing, and you call your insurance company to find out if your testing will be covered, they might tell you that the testing is a covered service, as in, yes, your insurance covers it in general, but they aren’t necessarily explaining how much you may be responsible for because of your deductible, co-insurance, and co-pays.  If you have not yet met your deductible, and your deductible is $5,000, you might get a bill for all of the services provided up until $5,000. If you’ve met your deductible, or you don’t have one, but your co-insurance is 30%, you might still get a hefty bill for your genetic testing, because as I explained before, genetic testing is unfortunately very expensive.

If you are having genetic testing (or really any medical services), it is worthwhile to speak to your insurance company and ask them about the specific terms of your plan. Armed with this new knowledge about co-pays, co-insurance, and deductibles, you are now better informed and capable of having a good understanding about your financial responsibility for genetic testing. Trust me, your medical providers do not want you to end up with large and unexpected bills either.

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