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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.

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.

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.

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!

Your Genes are not (always) your Destiny

crystal ball It seems that over the course of any medical show series on TV, there will inevitably be a character who has     been tested for the genetic condition called Huntington’s disease (HD). I’ve seen it a million times between        ER, Grey’s Anatomy, and House, but recently I have even seen it even in the non-hospital setting on           Breaking Bad. In fact, when I googled it, I even came across a Wikipedia page called “List of Huntington’s     disease media depictions.”

So why is Huntington’s such an appealing topic in the media? Well, for starters the progression of the disease is so steep, that it is startling.Huntington’s is a neurodegenerative disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems starting at around age 40. Life expectancy in HD is generally around 20 years following the onset of visible symptoms and there is no treatment or cure. When I was in grad school, I visited the Huntington’s Disease Unit at Terence Cardinal Cooke Health Care Center. I remember meeting a woman who was in her 50s who used to be a law librarian, and also a 40-something year old man who was a former judge in the New York State Supreme Court.Both were obviously very intelligent individuals, but were now experiencing severe muscle jerks called chorea, dementia, and disturbed behavior, among many other neurological problems. I remember leaving the unit that day and calling my husband on my way out to warn him that I would be in a depressed mood.

Huntington’s disease is “100%, or completely, penetrant,” which means that people who have the genetic mutation at birth will definitely develop the disease to some degree at some point in their lives. The interesting thing is that these people are not surprised when it happens to them, because only people who have affected parents will be affected. Affected individuals have a 50% risk of passing the disease mutation to each of their children. So while not all children of affected individuals will inherit the disease, if you do have Huntington’s, you have inevitably seen one of your parents suffer from it before. There are many ethical issues that arise in the realm of genetic testing in Huntington’s families–issues such as when to test an individual, determining the psychological well-being of the individual prior to testing, disclosing this information to partners, and doing prenatal diagnosis with the possibility of selective abortion, to name a few. The combination of the disease course, severity, and these ethical issues obviously makes for good plot lines.

Luckily, most genetic diseases are not 100% penetrant. Individuals who carry the genetic mutation for diseases with “incomplete, or reduced, penetrance” are not guaranteed to develop the disease. Incomplete penetrance often is seen with familial cancer syndromes. For example, many people with a mutation in the BRCA1 or BRCA2 gene will develop breast or ovarian cancer during their lifetime, but some people will not. Individuals with a mutation in a mismatch repair gene associated with Lynch syndrome are likely to develop colon cancer and other GI-related cancers, but this is not definite. Doctors cannot predict which people with these mutations will develop cancer or when the tumors will develop. These familial cancers also may appear to “skip” generations due to incomplete penetrance.

While there is, at this time, nothing that can be done to prevent Huntington’s disease, the good news is that individuals with BRCA or Lynch-related mutations can take actions to reduce their risk of developing cancer.  Carriers may consider risk-reducing surgeries: female BRCA carriers may have mastectomies and/or oophorectomies, and some many individuals with Lynch syndrome will have colonic resections. Additionally, these carriers will increase surveillance with more rigorous screenings (think mammograms and colonoscopies), and many will try to alter their lifestyle with diet and exercise.

Isn’t it encouraging to know that all the stuff you’ve inherited from your parents (the good and the bad) is  not necessarily your fate?

The Law Protects My Genes?!?

DNA code analysis

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

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

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

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

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

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

 

You’re a Genetic Counselor?

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

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

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

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

This consultation is important for a number of reasons.

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

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

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

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

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

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

 

Our New GeneSights Lesson: Inflammatory Bowel Disease

genesights logo

After months of hard work, we recently launched our next lesson on our GeneSights Jewish Genetic Online Series. You’ll remember how excited we were when we launched our first lesson on BRCA1 and BRCA2 related Hereditary Breast and Ovarian Cancer. Well, we’re just as excited about our new lesson about Inflammatory Bowel Disease (IBD)!

For this lesson, we have a fantastic speaker, Dr. Judy Cho, director of the Inflammatory Bowel Disease Center at Yale, who shared her expertise about Crohn’s Disease and Ulcerative Colitis. The associated PSA, Alyssa’s story, can be seen here. Truth is, even though I have a number of friends who have Crohn’s disease, I really didn’t have any idea what it was all about until I watched Dr. Cho’s webinar.

We partnered with the Crohn’s & Colitis Foundation of America (CCFA) – Greater New York Chapter to increase awareness about IBD, and help connect those who are dealing with IBD or are trying to find out more about IBD, with a fantastic resource!

Remember, signing up for GeneSights 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 Crohn’s Disease and Ulcerative Colitis. I know it informed me!

Come learn with us!

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

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

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

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

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

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

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

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

Forty Years

Operation Gene Screen

Last week I went to a retirement party for Dr. Sachiko (Sachi) Nakagawa, a former colleague of mine from my time in the genetic testing lab at Jacobi Medical Center.   When preparing for the speech I delivered at the party, I reviewed her invaluable contributions in the realm of Tay-Sachs disease screening, and I thought that you all needed to hear a bit (or maybe more than just a bit) about those.

Sachi was trained as a biochemist and ended up here at Einstein in the late 1960s for additional training after receiving her Ph.D.  In the early 1970s, she joined the group of Dr. Harold Nitowsky, who was on the verge of setting up the Tay-Sachs community carrier screening program known as Operation Gene Screen.  To quote Sachi directly, “this is how I ended up doing Tay-Sachs carrier screening till now … and nobody told us we made any mistake for the last 40 years.

Forty years devoted to Tay-Sachs enzyme screening! Hard to imagine—especially if you knew that she hardly missed a day of work or took a vacation!  Sachi must have tested tens of thousands of samples, starting with for the early Einstein screens, and then for commercial laboratories, for infertility clinics, and for Jewish genetic screening programs nationwide, including our own Program for Jewish Genetic Health.   To Sachi, the focus was never the total number of samples—each sample was treated with the utmost care, and each was tested and retested to ensure an accurate classification.

One of Sachi’s most important technical contributions was her development of the platelet assay for Tay-Sachs carrier testing. Until Sachi’s platelet test, Tay-Sachs testing of Hex A enzyme activity was being performed on serum (the part of your blood that is neither a blood cell nor a clotting factor).  While this was a good test for identifying carriers, many samples were yielding inconclusive results. I remember Sachi describing to me her “aha moment.”  While at a scientific conference, she realized that platelets (a component of the blood that is important for clotting) would be a much more homogenous sample than serum, and could possibly overcome the significant number of inconclusives.  And Sachi was correct about this.  Her platelet assay became the gold standard test that not only was a gift to the Jewish screening programs but also helped to identify Tay-Sachs carriers from ethnic backgrounds that were not 100% Ashkenazi Jewish.

Along that line, it is important to recognize that Tay-Sachs disease, in addition to in the Ashkenazi Jewish population,  also is seen more frequently in other populations including the Irish, French Canadian, and Cajun—and this is something that is often overlooked (but see also an earlier blog).  I will never, ever forget an email exchange I had with Sachi when she was asked to confirm a probable diagnosis of Tay-Sachs in a sample from a baby of Irish descent.  “There is no HexA enzyme peak,” she related, “the baby is affected with the disease.” Thankfully, we don’t see much of this anymore in the Jewish population due to the carrier screening programs, and hopefully the same trend will follow in other prone populations in the future.

A co-worker of Sachi’s told me that, on Sachi’s last day in the laboratory she said goodbye to her instrumentation and thanked it for its stellar performance.   And hearing that made me give pause for thought. The world of genetic testing is moving at rapid fire pace these days.  It is important to remember that, before DNA was discovered, and before the genes and mutations associated with specific diseases were characterized, there were biochemical genetic tests, some of which are still being used today (today we test for Tay-Sachs carriers both by looking for mutations on the DNA level and by assessing enzyme levels).  People like Sachi, who developed and ran these tests in the most dedicated manner, will never be forgotten by her colleagues.  I hope that she also will be remembered by the countless screened individuals who benefited from her expertise, as well as by the community as a whole.  Kudos to you, Dr. Sachiko Nakagawa.

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