genetic testing

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.

Is That Gender Genetic Test Really 99% Accurate?

Is That Gender Genetic Test Really 99% Accurate?

The recent NY Times article brought to light the fact that many women are not fully informed about the accuracy of prenatal tests, such as NIPT. In this post, I break down the 3 facts my patients wish they knew earlier.

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.

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.

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.