How Do You Know What You Don't Know When You're Not Informed of What There is to Know?

We hear the story only too often- a patient gets results from genetic testing or screening, is given some basic information, or perhaps even misinformation and finally makes their way to a genetics professional only to realize that they misunderstood their risk, or what the test actually looked for.

This led me to wonder about women's experiences with genetic testing in the perinatal/prenatal period. I wanted to try and figure out what it is that patients actually want and need. For any of you that have ever worked with me- you know my love for getting data! So off I went on my quest and began polling friends and friends of friends with questions to gauge their experience with genetic testing and genetic counseling. As genetic counselors, we are trained to empower patients to make their own decisions by giving them the tools and information to do so. But what if people don't even know that we exist to give them that information?

Preliminary findings from my (very informal) survey indicated that a striking 53% of people wish they had a more detailed discussion to understand test options, what the tests look for and further guidance surrounding testing and potential results. About half of the women responded that while they had a general sense of what the tests offered looked for they ultimately did the test that their doctor recommended. This indicates to me that in general, even when people have a decent sense of what is being offered, there is less than a full understanding surrounding what the test looks for or what potential results may be. What I would further like to explore is how this compares to perhaps a cohort of women who received "abnormal" or high risk results. Would these women in retrospect wish their pretest education were different?

80% of respondents indicated that they would have found it helpful to have access to a genetics professional via phone or email to chat about testing options, results, or concerns.

The reality is that majority of people, whether in pregnancy or not, tend to have additional questions even after they visit a doctor or genetic counselor. Yet, there's very little out there in regards to resources that give people the professional guidance. We live in an age where google becomes our 2nd opinion doctor, and where we crave the opportunity to have a conversation with a professional in a comfortable, calm environment where we can better process information.

In an ideal world, everyone would have the opportunity to meet with a genetic counselor to review all the options- but we all know this is not scalable. There just aren't enough GCs to do this, and in 2018- we have many other means via technology to disseminate quality information. So much has changed in the past 10 yrs with testing options available to women in pregnancy, yet we haven't done much to change the way we operate clinically.

If we keep operating the way we always have - we'll keep getting the same outcomes of potential misinformed and anxious patients.

It's time for deeper evaluation, innovation, and operational change so that we continue to uphold the mission of genetic counseling.

It is an exciting time to be a genetic counselor where we can be part of this pivotal change in innovation with healthcare delivery models. There is no lack of patients who need our services and I applaud all the new companies that are working towards the mission of increasing access to genetic information. While the past 5 years has seen a rapid increase in access to genomic technology and testing, the next few years absolutely need our focus on innovating the way that we deliver clinical care.