Is That Gender Genetic Test Really 99% Accurate?

Your doctor or midwife may have talked to you about the non-invasive prenatal test or screen (NIPT/NIPS).  This is a test that looks at the risk for baby to have some of the more common chromosome changes that can impact baby’s health.  Because it can look at the X and Y chromosomes which make up the baby’s sex, the test is often referred to in many social circles as the “gender test”.  

NIPT has become increasingly popular over the past 5 yrs because it far out performs traditional blood screening tests in regards to detection rate.  It is also non-invasive, meaning there’s no risk to the baby since it’s just a blood test on mom. So what’s the down-side you ask!? The biggest negative about this test is the lack of understanding about how to interpret the results.

I’ll break down the top 3 myths that that every genetic counselor wishes you knew!

1. Everything is normal!

So, if you get a result that does not indicate any high risk- this is great news!  What’s key to remember is that this test isn’t looking for ALL chromosome problems that could occur, just the few that are most likely to occur. Also, this test doesn’t look for all possible genetic changes (really, there is no one test that does).  So bottom line, definitely good news that results came back within normal limits, but understand that it doesn’t look for all things that could cause issues.

2.  The test has a 99% detection rate, so a “high risk result” means there’s a  99% chance that baby has this condition.

It is very alarming to receive results that put you at a higher risk to have a baby with a chromosome condition. What’s super important to remember is that for us to confirm these results we absolutely need to do additional testing referred to as diagnostic testing.  This includes tests such as a chorionic villus sample (CVS) or amniocentesis (Amnio).  

Remember- while a test may have a 99% detection rate, it does not mean that it is 99% accurate.

The chance that your “high risk” or “abnormal” result is truly an abnormal result ranges anywhere from 30-90%. The range depends very heavily on your age.

3.  This blood test is safe and replaces the other tests that can cause miscarriage

True, this test is a safe test in that it is not invasive (just a blood test) and does not pose a risk to the baby.  However, it is inaccurate to think of it as a replacement test for a CVS or amniocentesis. There are a couple reasons for this.  First, these diagnostic tests (CVS and amnio) are going to give you a yes/no answer vs a risk estimation that the blood test does.  Second, diagnostic tests (CVS/Amnio) look at all the chromosomes and can even take a deeper look at the chromosomes to detect micro changes.  Studies have indicated that 2-3% of people will receive a diagnosis via CVS/Amnio that would have been missed on the blood test. This number jumps to 6-8% if there is a structural abnormality noted on ultrasound.  

So what about the risk of miscarriage from the CVS or Amnio tests?  Yes, these are invasive tests, so they do pose a risk for complications that could lead to miscarriage.  Most up to date data indicate that the risks for miscarriage are closer to 1/350-1/500, and some even quote closer to 1/1000. This is very different than the older numbers that quote a 1/200 risk of complications.  Every institution and provider quotes their own risks- so it’s important to understand the specific risks for the center that you are working with.

Some Final Thoughts

So bottom line, NIPT is a great test that can give you really useful information, but isn’t 100% accurate and cannot look at all genetic changes.  The most important question to ask yourself however is, “What information am I hoping to gain from this testing?” If you are looking for a test that can give you the most refined information on your risk for having a baby with a chromosome abnormality, then considering a diagnostic test may be a discussion that you need to have. If however, you understand that NIPT gives you info on some, but not all chromosomes and are at ease with this information, then by all means go ahead and get your blood drawn!

There’s really no right or wrong answer in how to best approach testing. I have talked to hundreds of women and families and I can tell you that everyone approaches decisions differently and in their own way.  If you find yourself struggling to decide what the best route is for you, don’t hesitate to chat with a genetic counselor. That’s exactly what we are here for- to help you make sense of all this testing and guide you to making the choices that best fit you and your family.

Still Have questions about your results? schedule a telephone session with us.

How Your Podiatrist can Order Genetic Testing, But Your Genetic Counselor Can't

THE BACKGROUND

If you're in the field of genetics, you've likely heard chattering about oppositions to some interpretations of the HR3235 bill (not officially passed as yet).  And if not, here's a quick synopsis.  This bill provides coverage under Medicare of genetic counseling services that are performed by genetic counselors (GCs). This is huge since it recognizes Genetic Counselors as providers whereas currently Medicare/Insurance companies require that a physician be present to supervise GCs in order for a session to be conducted and paid for.  Genetic counselors have made great strides with obtaining state licensure and towards getting this bill passed.  Quick take home message- the passing of this bill will ultimately increase access to care for genetic services by significantly reducing wait times (there are more GCs than MDs who are specialized in genetic health), save overall healthcare costs (GCs bill less than MD counterparts for genetic counseling),  and decrease fraud (Providers who inappropriately bill Medicare for genetic testing that's not warranted).

WHO ARE GENETICS COUNSELORS?

Genetic counselors are master's trained genetics professionals who help patients understand risks related to family health history, review genetic testing options, help patients understand their results, and navigate patients through all of the above with our counseling skills so that they make the best decisions for themselves.  Sounds great, right!?  We and many of our patients think so, however, there's a professional society called the American College of Medical Genetics (ACMG) which feels that GCs should not be able to order tests independently and should work within the supervision of an MD trained in Genetics.  Genetic counselors are quite miffed by this since for years we've demonstrated that we are in fact very qualified to be part of the test ordering process and that limiting so, limits access to care for our patients. Recently, ACMG has gone as far as to say to states that provide licenses to GCs that allowing GCs to order tests could be problematic. However, here are 4 examples from our partners in care that think otherwise: \

1. Trusted By Large Hospital Administrators: GCs are increasingly sought out by hospital health systems for test utilization management. This means that hospital administrators have acknowledged having genetic counselors review genetic test orders from multiple specialties (ie, Neurology, Cardiology, Oncology etc) has had a significant positive impact on ensuring that the correct test is ordered (this means better outcomes for the patient) and that the most cost effective testing option is selected (this means saving $$$).

2. Trusted by Labs that Develop the Tests: A good genetic testing company will employ genetic counselors (my opinion- not fact).  Having a GC on staff helps with ensuring that the test that's developed has good clinical utility, ensures that ordering providers understand the benefits and limitations of the test, and provides a support to patients and providers in test ordering and interpretation of results.

3. Trusted by MD Colleagues: In my own experience, which mirrors many of my GC colleagues' experiences, our MD colleagues from various specialties often defer to genetic counselors when considering ordering genetic testing and when interpreting genetic testing results.  In fact, genetic counselors, alongside our OBs, MFMs, Oncologists etc have sat together with reps from the testing labs to discern which lab would be the best to work with. When patients come to their primary care doc with genetic testing results from direct to consumer testing, they turn around and refer the patient to us.  When variants of unknown significance pop up on test results, oncologists and cardiologists have referred patients to genetic counselors. 

4. Trusted by Insurance Companies: Many insurance payers require patients receive genetic counseling prior to testing and will in fact not cover the cost of testing if a patient has not had genetic counseling.  So again, here we have a large group of Medical Directors at large insurance companies valuing the input of genetic counselors to validate which test is the appropriate test to order, yet the irony is that GCs cannot order these tests ourselves.

So great, my above points highlight that GCs are valuable and competent to make decisions on ordering genetic testing. But the heartache here isn't that we simply are not able to put our signature on a test order form. The real issue is that this law significantly impacts access to care and overall workflow of getting appropriate care to patients on so many levels.]

Let's go through a typical scenario to highlight the workflow under the current paradigm.

CASE EXAMPLE:

A couple is considering IVF due to difficulty getting pregnant and pregnancy losses.

OPTION 1, AKA CURRENT STATE OF AFFAIRS:

Patient Sees GC --> GC evaluates nxt steps --> GC has to contact patient's primary physician to explain what tests should be ordered and from where (or have patient do this on their own) --> Patient is confused about why GC can't just do this --> Primary care doc may or may not agree to this --> Patient gets frustrated with the process --> GC spends way too much time coordinating which limits the number of other people they could be helping. 

OR

OPTION 2: IN A WORLD WHERE A GC CAN ORDER GENETIC TESTING:

Patient Sees GC --> GC evaluates nxt steps --> orders testing --> reviews results with the patient.

Note, in this scenario, if the GC is unable to appropriately assess the patient, the GC knows exactly how to get the patient connected with a Medical Geneticist or  Reproductive Endocrinologist who can then further assist.

WORKAROUNDS

So instead of relying on changes to legislation, workarounds have been created to help with access.  Since labs are unable to be the ordering provider for patients (conflict of interest here), they often contract with a 3rd party service that has a group of MDs that review the case and then "sign off" on it.  Some of these MDs are trained in genetics, where others may not be.  Again, while this does solve some of the problem in getting tests ordered, it underutilizes a large workforce of professionally trained genetic counselors who could create more effective access.

IN CONCLUSION

Genetic counselors have a unique skillset that enables them to understand all the nuances that can occur in a family medical history as well as help patients determine if genetic testing is in their best interest.  This process to evaluate the utility of genetic testing in an individual case takes time that many non-genetics providers may not have.  Limiting access to care that can be provided by genetic counselors ultimately hurts the patients that we could be seeing.  Patients are more likely to be shuffled around and wait long times to get the care that otherwise they would be able to if only GCs were recognized by insurance companies and Medicare as "providers".

So if we are trusted by labs, trusted by hospital admins, and trusted by the larger medical community; then why are we not allowed to be the ordering provider?

Look, we don't completely understand the logic in limiting our ability to order tests. Clearly we are trusted by many to help with this process, yet when it comes to the formality of independently ordering the testing, our hands are tied by the laws currently in place.  We value the relationship we have with our Medical Geneticists. And we know just when to refer patients to a medical geneticist (just this week I have referred 3 patients to a local genetics clinic for evaluation).  But what strikes us as strange is that the American College of Medical Genetics feels that any MD is better able to order a genetic test vs a genetic counselor. And that to us, and to many of our patients, and physician colleagues just makes no sense.

So this is why at this time, you'll have better luck having your podiatrist with an MD at the end of their name order that preconception genetic carrier screening you're considering than a prenatal genetic counselor. 

And if you want to be part of the change - support our state licensure efforts and encourage your physician colleagues to express their support as well.

Link to Bill HR 3235: https://www.congress.gov/bill/116th-congress/house-bill/3235/text

Ways to Support the Bill : https://www.hr3235.com/supporters

Can Your Genetic Testing Results Impact Your Ability to Get Insurance?

The popularity and ease of genetic testing has rapidly increased over the past few years. With the ability to take a genetic test from the comfort of your home, without a medical provider involved, more and more individuals are getting information about their genetic health.

While the ease of testing has certainly been a barrier to receiving genetic health information, what most people may not consider is the potential impact of insurance coverage down the road. At this time, the federal Genetic Information Non Discrimination Act (GINA) has protections in place that prevent health insurers from asking about or using your genetic information to determine coverage or cost for a health insurance policy.

Unfortunately, an insurance company can ask you about your personal and family health history, including genetic testing prior to determining whether to offer you a policy or in determining how much to charge you for a policy when it comes to life insurance, long-term-care or disability insurance.

Most people are accustomed to life insurance underwriters/companies requesting medical records from their doctors prior to issuing a policy. While at-home DNA tests, like 23andMe, give you the ability to order the tests from the privacy of your home and keep the results out of your doctor’s medical file; life insurance and long-term-care companies have the ability to also ask you for this information. However, if you take a genetic test after you have already received a policy, your results cannot affect your coverage.