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.

The Best DNA Testing Kits for Kids: What You Need to Know Before You Test

Before the not-so-long-ago days of mail in your DNA sample (via testing kits like 23andMe or AncestryDNA) - getting genetic testing for conditions that impact adults (ie, breast cancer, Alzheimer's, Parkinson's) was not something you heard of or even thought about for children. In fact, many professional genetics and pediatrics societies strongly urge against it. So fast forward to 2021 and now, without the guidance from a health care provider, you can easily order a testing kit online, have your kid spit in the tube, and get results for a multitude of conditions that you may have never even heard of, and that certainly won't impact your child's health until they are in adulthood.

So what's the big deal you ask? Isn't knowledge power? And shouldn't we as parents have the right to know if our child may be at an increased risk for health concerns in the future? And the answers to these questions are yes and kinda yes, respectively. Genetic testing for kids absolutely makes sense in some situations. These are the situations where a child may be presenting with health concerns that may span across many organ systems. In genetics, we often try to discern if something is an isolated finding (ie, a specific heart defect) or if it is part of a larger syndrome that could potentially impact multiple systems (ie, Noonan syndrome). In these situations, where there are clear health concerns, genetic testing can be really beneficial in getting you answers and connected to the right resources.

But what about if your child is healthy? The most common scenario we see with at home DNA testing is where someone sends in their child's DNA sample because they are curious about ancestry. Then a few weeks later they receive an email asking if they want to uncover the analysis of certain genetic health traits. The barrier to clicking "yes", due to the ease of ordering and the relative cost, is now very low.

When information about our future is so easily available, it's more challenging to pause and process what impact having that information will have.

The reason the professional genetics and pediatric societies urge against genetic testing for adult onset conditions is because having that information may do more harm than good. The big question that needs to be asked is "will this information alter the current way that we manage my child's health care?". And, if the answer to this is "No", then you probably shouldn't proceed with testing. So let's play out a scenario where you uncover that a 9 yr old has a BRCA1 variant and is at an increased lifetime risk for breast and ovarian cancer. This is very powerful information and will absolutely impact the health care of this individual- but definitely not at the age of 9. Knowing this information at the age of 9 will not impact or alter the management of this child's health care one bit. No additional screening or testing would be warranted or be helpful at this age. However, knowing this information at this early age can increase anxiety in the parents and child (if they are aware), can alter your relationship with your child (now you may subconsciously or consciously treat them differently knowing that they are at an increased risk for cancer.), and a host of other concerns that someone with a degree in psychology would be better suited to address.

The other layer of complexity with genetic testing of minors are issues surrounding privacy and autonomy. While most genetic testing companies have a layer of built in privacy measures, there are situations where your genetic information online may not be secure or can be linked back to you. In regards to autonomy; making the decision to do genetic testing on a minor for conditions that may occur in their adulthood, takes away their choice to know this information. That's right... your child, once they become an adult may not want to know some of this information. After doing this for years, I have seen how various people faced with the same risk make very different decisions about genetic testing. And the reason for this is that each person makes the best decision given what they know about themselves. For example, one person may absolutely want to know if they are at an increased risk for Alzheimer's because for them it would propel them to make modifications to lead a healthier lifestyle, or feel more in control of how they plan their future. Other people cannot bear the burden of knowing that they are at an increased risk and know that the information would cause more anxiety and stress in their lives than any potential positive outcome.

It may all start out with an easy to use test that gives you insight into your kids' ancestry - but I cannot urge you enough to stop and ask yourself the right questions.

It is much easier to take a pause as you sort out the questions in your head before you take a test than it is to unlearn the information that genetic testing results may give you.

Genetic testing companies may or may not educate consumers surrounding the risks of testing minors- but if you've made it this far in this article, hopefully you'll be armed with insight that can best guide you to make the best decisions for your family. And, if you find yourself in the not so uncommon position of not knowing whether testing is right for your or your child, reach out to a genetic counselor whose training and experience is specifically designed to help you.

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

The Most Cost-Effective way to Personalize Your Healthcare, Right Now

It's that time of year again- the air is crisp with a cool breeze and the leaves are starting to transform into brightly colored hues, reminding us that Thanksgiving and family reunions are around the corner (sorry I'm late on this Canadian readers- I know Thanksgiving has passed and likely so has fall for you too!). It is also the time of year where if you have a genetic counselor (GC) friend, you will likely be nudged about the importance of family health history. Us GCs have a hard time not sliding in the utility of family history at any opportunity we get.

So what's the hype about family history? Knowing info about your family history is like giving your doctor x-ray vision with google alerts into your health. Almost every doctor you go to will ask some basic q's about health conditions that could occur in your family so that they can keep a closer eye on things if you are at an increased risk. Does it mean that you are definitely going to get that the same condition or symptom that a family member has; not necessarily. But, it's one valuable piece of your healthcare puzzle that allows docs to better manage your care. I recently went to my eye doctor for a routine check up and walked away from that routine appointment with eye drops to prevent glaucoma despite having no outward symptoms. Knowing that I had a family history of glaucoma and the current clinical presentation of my eyes made my doctor more likely to start me on treatment than if I didn't have a family history. Without information about my family history, she likely would have delayed starting treatment until a subsequent visit. The combination of family history information and current clinical presentation can be very informative in accurately diagnosing and treating people in a more personalized way.

At my last place of work, we were curious about how often information gathered from family history results in something significant (Thank you Sarah Lawrence College GC interns for gathering the data!). We discovered that about 30% of the time there was something that came up in the family history assessment that led to a referral to another provider or additional screening recommendations. Folks, that is about 1 out of 3 people who were able to take positive action to improve their health as a result of being asked their family history. That is not an insignificant number. Keep in mind that these are people that otherwise had no real indication for having a family history taken other than being asked if they would like to have it reviewed.

The reality is, that many of us, myself included get a bit apathetic when asked these questions at doctors visits. They take us off guard, it's usually not the reason you're seeing the doctor in the first place and we casually circle the "yes" and "no" on the forms. So what can you do to streamline this process? Take the time to gather basic family health history info when you can, and then keep this info with you either in a written format or saved in the notes section of your phone. This way when you're repeatedly asked for it, you have a single point of reference.

Ok, so you're thinking, "great, you've convinced me of the importance of gathering family health history... but I have no idea how to broach the topic." When we pause to think about it, there is a huge cultural shift in the past 2 decades where we as a society are more apt to share personal information than we ever were. I recently read a meme that said, "When we were kids we used to get upset if someone read our thoughts in our journal, now we get mad when someone doesn't read our thoughts and comment on them". In healthcare we see this trend as well, where typically older generations are less likely to be open about family health history compared to their younger cohorts. In clinical practice, I often heard patients mention that it's challenging to bring up topic of family health history. One way that a few people found success in introducing the topic was to say something casual along the lines of, "Hey, all my doctors lately are asking about family health history. Is there anything significant in our family history that I should know? Was there anyone that passed away young or anyone that needed ongoing treatment or surgery for anything?" Another tool that worked well for some patients was printing out or emailing a family history questionnaire to their family members.

We likely spend more time planning our Thanksgiving dinner and reunions than we do thinking about our family health history. This Thanksgiving let's start the conversation to take control of your health by understanding a bit more about your family health history. To support you in this process, one of my next posts will feature the top questions that leaders in their specialty (cancer, neurology, cardiac etc) wish you had the answers to. Until then, happy Thanksgiving planning and family history collecting.