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.
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.
This week alone, I spoke with 8 couples in pretty much the same situation. The women were all around the same age and around the same gestation in early pregnancy. So you would think that the testing options to learn about risks to their pregnancy would be the same, right? Well, I was surprised and a little shocked that almost each of them had a different understanding of what was offered and available to them. In fact, the only consistent thing was that they all felt a bit lost, overwhelmed and in need of some guidance.
So what is all the confusion over? For starters, all genetic testing is clumped together as just "genetic testing". Often, women are given a sheet of paper that has the different tests that are available and asked to choose which one they want with very minimal discussion surrounding what these tests are. Here are some of the recurrent themes:
Carrier screening and NIPT are both genetic tests. So which one should I choose?
Do I need to do both NIPT and First trimester screen?
I was offered testing for CF and SMA, so I've already done carrier screening?
Hemoglobinopathy discussion is glossed over if not had at all in many people that are of at risk ethnicities.
I was offered expanded carrier screening for 500 conditions! More is better, right?
After doing telehealth for reproductive and prenatal genetic counseling for the past many years, both via my own practice as well as the work I do with Maven Clinic, it's clear that there are inequities in the information that women and couples in identical situations receive.
I initially started a remote genetic counseling practice to create easier access to genetic information and counseling - but what I have come to realize is that the power is far greater. In doing telehealth, where I can give health information to people beyond my physical geographic location, I am creating access to equitable information. I am able to give independent and neutral information where I can discuss all potential options.
Having worked in a variety of settings, the unfortunate reality is that even when there is equitable information that is presented to a patient, the access to a particular test may be limited by what insurance plan they have and their ability to pay for that test. In addition, it is not uncommon for women to receive limited information about testing options based on what their insurance may cover. However, it is my opinion that the ethical lines are a bit stretched when health care providers limit access to information and test availability based on assumptions of whether someone can afford a test. Sure, it leads to a more difficult discussion about how there are testing options that may not realistically be within reach and highlights larger health inequities. However, for me, it is far more important to be the provider who informs people of their options, listens to their concerns, and empowers and guides them to make the best decisions that they can feel confident about.
