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.