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, a helpful 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, sinceyou have a 20% co-insurance, so your insurance company will only cover 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.

Genetics and Athletics

heart basketballLast week while my husband and I watched the NBA draft, we were touched to see 20 year old Isaiah Austin receive a ceremonial pick by the NBA. Austin is a star center for Baylor’s basketball team and has been projected to be a first round pick in the next NBA draft.  When he went for his routine physical, his electrocardiogram was abnormal, and Austin was sent for a more comprehensive cardiac workup. Soon after, he was diagnosed with the genetic condition known as Marfan syndrome and was advised by his doctors to quit playing competitive basketball.

At 7’1”, Austin’s height makes him an asset to any basketball team, but his height also is telling of his condition. Marfan syndrome is a connective tissue disorder.  Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, such as the heart, blood vessels, bones, joints, and eyes. The classic “Marfanoid habitus” is someone who is very tall and thin, with long fingers, flexible joints, scoliosis, and a chest that sinks in. Some features of Marfan features, such as aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body), can be life-threatening. So while some signs of Marfan are easy to see, some affected individuals may have the disease and not even know. Those affected individuals are at highest risk to have sudden cardiac death (SCD), since they might not be seeing their doctors or reducing their risks of aortic dissection or lung collapse.

Each year, SCD claims more than 300,000 lives in the United States. Up to 10% of cases of sudden cardiac death in general, and 25% of cases involving a family history, are thought to have a hereditary basis. Aside from Marfan, there are other conditions which can include SCD—some of these conditions include Long QT, Brugada syndrome and hypertrophic cardiomyopathy. Most inherited arrhythmia conditions such as those mentioned have an autosomal dominant inheritance pattern. If someone has it, there is a 50% chance he or she will pass it on to each child.  For many of the SCD diseases, genetic testing can help establish a diagnosis and may serve as a tool to screen family members.  Medications, medical surveillance, and reducing physical activity can save lives. As with Austin, knowing your risk before something devastating happens is key.

Austin was tested for Marfan because he had an abnormal screening test, but most athletes do not engage in genetic testing.  Sports-related genetic testing is not widely used, but is available. While many professional sports organizations have shown interest in having players screened for conditions such as sickle cell disease and hypertrophic cardiomyopathy, GINA issues arise and players’ genetic information is no longer legally accessible to their employers.  Recently, more than a dozen companies have started  to offer sports-related personal genomics tests and services. The “DNAthlete: Athletic Profile” provides consumers with genetic information related to endurance, muscle mass and strength, and grip strength. While the clinical utility of this information is up for debate, many athletes may want this information so they can integrate it into their training regimens.

“I have a whole life ahead of me,” Austin said. “I’m not going to sit here and I’m not going to sulk about not being able to play basketball anymore, because I can still be involved with the game somehow or some way.”

When asked what’s next, Austin responded “Everything.”  And that is exactly why he was the NBA’s most valuable draft pick.

The PJGH goes camping

camp pjgh banner

As a scientist, I am used to running experiments, and, par for the course, oftentimes these experiments fail. I am pleased to blog here about an experiment we ran this past week at Einstein that proved to be a huge success! Specifically, the Program for Jewish Genetic Health (PJGH) ran its first ever Jewish Genetics Bootcamp, and for this endeavor I temporarily changed my role from Program Director to Camp (co-)Director (along with our two amazing PJGH genetic counselors Chani and Estie).

The camp was envisioned as a mechanism to introduce high school and college students who have expressed future career interests in genetics to the field (from the PJGH perspective). While students in this category sometimes intern with us or alternatively are mentored by us in more informal ways, unfortunately we cannot accommodate all requests for this. Camp, or more appropriately bootcamp (keep reading this blog…), was our three-day solution to this problem.

We decided to keep the inaugural group of campers small, since we thought this would facilitate interactions between the campers and the staff. Fortunately, the campers who joined proved to be outgoing, inquisitive, and insightful—which led to lots of questions, discussion, and debate. We even picked up 2 crashers!—undergrads who happened to be on the Einstein campus for summer research programs.

Camp PJGH centered around half-day sessions, presented by Chani and Estie, on three main topics: clinical genetics/genetic testing, Jewish genetic diseases that can affect offspring of carrier couples (e.g., Tay-Sachs and Familial Dysautonomia), and inherited cancer predisposition syndromes (e.g., hereditary breast and ovarian cancer syndrome due to BRCA). Another more future-looking session was entitled “Expanding panels, expanding ancestries, and expanding technologies.”

Aside from these formal sessions, we also exposed the campers to a variety of genetics professionals—a genetic counselor, a PhD scientist, an MD reproductive geneticist, an MD pediatric geneticist, and an MD fertility specialist. The presenters reviewed their training paths, shared what their typical workdays look like, and divulged their most/least favorite aspects of their jobs. The campers were intrigued by the fact that many of us have had “turning points” that have resulted in the refocusing of career paths. For me in particular, my transitions have been from research scientist to clinical laboratory scientific director to PJGH program director. When describing the last transition, I was really able to convey how my journey has led me to a remarkable endpoint where I am able combine my scientific background with the service of the Jewish community.

Finally, during the camp’s self-study sessions, the campers were guided through current newspaper articles that were a little more controversial in nature—addressing questions such as should healthy adults (or even healthy babies!) undergo whole genome sequencing, or should all Ashkenazi Jewish individuals be tested for the common BRCA mutations. And, for night activity (okay, it was really homework), the campers were encouraged to visit selected websites including our very own online learning platform, and also were provided with some on-theme book and movie recommendations.

And the experimental result and conclusions are already in. In the campers’ anonymous post-camp evaluations, camp was deemed a big hit! One camper even remarked “it made me realize how much awareness needs to be raised, and how much I want to be involved with genetics in the future.”

I am looking forward to a reunion with season 1 campers, and to planning for season 2!

P.S. And yes, we most definitely had s’mores. But there were no tents and it wasn’t a sleepover camp (although one camper remarked that next time we run a bootcamp, it should be longer than 3 days!)

 

Insurance Coverage and Genetic Testing: Part 1

(image courtesy of www.stockmonkeys.com)

(image courtesy of www.stockmonkeys.com)

As boring as it may seem, I actually get asked this question ALL THE TIME. Both by patients and also while giving talks in the community. People get very excited about the possibility of using genetic testing in their own lives, but wonder, how affordable is it really?

Here are a few things that I’ve learned over the years, which may help you navigate that big wide world of insurance coverage for genetic testing. (Use this helpful insurance terminology dictionary to help you through the post!)

Most of the time, genetic testing is treated like any other lab test. When the lab bills your insurance company, most of the time the genetic testing is covered the same way other lab tests would be covered. You may be responsible for your co-insurance and deductible. This differs by insurance policy! You should find out what your insurance’s policy is! Now, when your doctor checks your cholesterol, if that test costs $60, even if you are responsible for 30% of the cost, your “out of pocket” charge is not so significant. Genetic testing on average costs anywhere from a few hundred dollars per test, to thousands of dollars per test. So even if your insurance “covers” the testing, your co-insurance or deductible may leave you responsible for a large amount of money.

Now, there are a few exceptions to this:

Exception 1: Your insurance has a policy whereby it does not cover ANY genetic testing.  This is not very common, but some insurance policies state straight out, that they do not cover ANY genetic testing under any circumstances. I have seen these policies before. If you are considering undergoing genetic testing, you should call your insurance company and ask if they have any specific policies about genetic testing. Typically they can direct you to the policy on their website so that you can read through it. Nowadays, as genetic testing becomes more commonplace, more insurance companies are developing genetic testing policies about what they will and will not cover, so it is worthwhile to look into this for your specific insurance plan!

Exception 2: Your insurance will only cover genetic testing if the correct “indication” or “code” is provided. Genetic testing is conducted in a medical model (even if it doesn’t always seem that way!) This means that it is ordered by a medical professional because of a certain indication. So in order for your insurance company to actually agree to covering the genetic test, the correct indication need be provided! For example, if you want to have genetic testing for Marfan syndrome, but you don’t have any of the signs or symptoms of this genetic disease, your insurance company will likely not cover the testing because there is no “indication” for it. For specific tests you may need to meet the “testing criteria” in order for your insurance company to cover the test.

Exception 3: Your insurance will only cover genetic testing if it is done at an “in network lab” Many insurance companies want you to use specific labs when you have your testing done. This may be easy for having your cholesterol checked (as that is a common test) however because genetic tests are unique, there may only be one or two labs in the country who do the testing that you need. So your insurance might cover your testing if it was done at Lab A, but Lab A doesn’t offer that test, it is only offered at Lab Q which is both out of state, and out of your insurance’s network.

Unless you’ve had to muddle through insurance policies and medical bills, a lot of this may seem new to you. The truth is, they don’t even teach us this stuff in school! Insurance issues tend to be one of those things you learn “on the job” as a genetic counselor (and one of the things you keep on learning as the field changes). It is definitely worthwhile for you to research your own health insurance plan’s benefits and your financial responsibilities, so you don’t have any surprises when it comes to your medical bills and insurance coverage.

When Bio Isn’t So Boring

My personal and professional worlds recently collided when I sat with my 9th grade son, Brian, to review for his upcoming Biology exam. The subject was the reproductive system, the stages of pregnancy, and fertility. The chapter ended with infertility issues and in-vitro fertilization (IVF), which allowed me to take his Biology unit one step further and explain to him the amazing technology known as “pre-implantation genetic diagnosis (PGD),” a topic on which my Program for Jewish Genetic Health colleagues frequently educate the Jewish community. At first, probably like most teenagers, he didn’t want to learn any more than what he HAD to know for his exam. But I was able to pique his interest by giving him a real life example of the miracle of PGD.

When Brian was 12 years old, one of his Little League teammates, Cody, had a younger brother named Jack who had Familial Dysautonomia (FD), one of the Jewish genetic diseases. Jack was like the team mascot, always there to cheer on Cody and run around the bases after many games. Cody also had two, twin toddler siblings often running around on the sidelines. While Brian knew that something wasn’t quite right with Jack, he was unaware that a modern day technology – PGD – enabled Cody’s mom to subsequently give birth to healthy twins.

So while reviewing infertility and IVF – and harking back to his previous Genetics unit – I was able to bring his Biology unit to life. I first showed him my MyJewishGeneticHealth.com “work” video of Cody’s mom, talking about how the miracle of PGD enabled her to give birth to two healthy twins and know they would not be born with FD. I then signed in to our full MyJewishGeneticHealth.com lesson to show him real video of how PGD is performed…plucking cells from 3-day old harvested embryos and testing them for disease, before implanting the healthy embryos into the womb. It was a real “Whoa, that’s cool!” moment for him, to see video of this technology at work, and to understand the peace of mind it gave to Cody’s mom and dad when they gave birth to their twins.

It’s often a challenge to make your child understand why the material they are studying in class is worthwhile. By showing Brian how modern day science can truly make an impact and prevent heartache in people’s lives, I was able to interest him in learning more than he needed to know for his exam.

Passover and the Seder: Time to be a Historian

sederPassover is traditionally the holiday of history. In fact, it is a unique time which we are told to actually be historians. The whole point of the Seder is so that we tell over the story of how we and our forefathers were slaves in Egypt, and G-d took us out. The Seder is set up to be multigenerational in that sense. Everyone is involved, grandparents, parents, children, and everyone has their own role.

Perhaps you already see where I’m going with this. Use this opportunity, gathered around with your family, to discuss and share your family medical history! Similar to the Seder, everyone in your family has a role in this, especially those who are already considered the family’s medical history “historians”.

Usually there are one or two individuals in the family who know something about the family’s medical history, but everyone else is typically clueless. I see this on a daily basis when I meet with patients and ask them questions about their family histories. I can rapidly tell the difference between those “historians” who know what medical issues run in their families, and those whose answers consist largely of “I don’t know”.

I didn’t know much about my family medical history until I became a genetic counselor and asked my mother (our family’s medical historian) all of the pertinent questions. My sisters still don’t know a lot, and their answers at a doctor’s visit will likely consist of a lot of “I don’t know”s.

Family medical history is something we all should know! It is the best predictor of future medical issues, and can help your doctors direct your care appropriately.

You can use this family history tool created by the Surgeon General, or these guidelines to learn what questions to ask, and how to take your own family history.

 

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!

New Lesson! New Name!

MJGH logoIf you haven’t yet heard, last week we launched our new GeneSights lesson about Preimplantation Genetic Diagnosis (PGD). Well, I should say, it’s not a GeneSights lesson anymore. After listening to the feedback we’ve been getting, we decided to change the name of our online education series to one that can be more easily recognized and understood. Welcome to MyJewishGeneticHealth.com!

Our new lesson on PGD is a very exciting one, and one which we hope will be a valuable resource to the community. Our speaker, Dr. Harry Lieman, is the Director of the Division of Reproductive Endocrinology and Infertility at the Albert Einstein College of Medicine, as well as the Director of Montefiore’s Institute for Reproductive Medicine and Health, and the Liaison for Fertility and Reproductive Technologies at the PJGH.

Our PSA, Robin’s story, can be seen here. Speaking with Robin and understanding her story was pivotal in understanding why we needed to develop a lesson about PGD.

As was true for GeneSights, signing up for MyJewishGeneticHealth.com is free, and obviously does not replace regular medical care or visits with your doctor. We hope this lesson will help inform you and your loved ones about the process and utility of PGD!

Come learn with us!

What I learned in Pittsburgh

lightbulbA few weekends ago, I traveled with two other leaders of the Program for Jewish Genetic Health (PJGH) to Pittsburgh, where we were scholars-in-residence for the “Mikey Butler Yahrzeit (memorial) Weekend.”  Mikey Butler succumbed to cystic fibrosis and complications of its treatments when he was 24 years old.  His parents, Nina and Danny, wanted to organize an event in his memory on the 10th anniversary of his death.  Being that Mikey loved his alma mater Yeshiva University, and being that he was “into” genetic testing and technology, having PJGH speakers for this weekend made a lot of sense.  On top of this, we ourselves had experience in “distant Jewish community-based genetics weekends,” as we had a great visit to the Memphis Jewish community in December of 2012.

Mikey’s mom, Nina, mobilized a large segment of Pittsburgh’s Jewish community for the events of the weekend—from doctors to high school students, from grad students to synagogue members and friends.  We gave talks on the myths associated with Jewish genetics, on the future of genetic testing, on the issues of stigma and disclosure as they relate to health, etc.  We heard really nice feedback—things like, “we came because the Butlers are our friends, we didn’t realize the field is so fascinating” and “you left the whole community buzzing.”  And the Pittsburgh folks are already starting to reach out to the PJGH:  a college student whose mom attended a talk called for career advice, a community educator asked for access to our educational videos.  It is estimated that we spoke to around 600-700 people over the weekend—that’s a lot of awareness and teaching over a really short time frame.

But, on the topic of teaching, I myself learned a lot that weekend too.

First, is what I learned from the Butlers.  I learned what it takes to mobilize a community—and I don’t just mean to get sufficient audience members into the room for an event.  There were countless organizations and multiple synagogues involved as sponsors for each and every session—all banded together for this, all of their differences put aside for this.  I also thank the Butlers for teaching me what an “open home” really looks like, for teaching me about family dynamics, for teaching me how one communicates about a child after the loss of that child, and more.

Second, is what I learned about myself—and actually it was Danny Butler who pointed this out to me.   By training I am a molecular biologist, but now primarily I am involved with education/outreach in the field of Jewish genetics.  But, in any of these capacities, when I think about the actual science, I do so through a lens of my Jewish beliefs.  I am simply awed by God’s creations, and this is especially marked when I am observing these creations at the level of the genome.

I am definitely going back to Pittsburgh.

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