The American College of Medical Genetics and Genomics (ACMG) recently recommended that screening for a broad panel of conditions be offered to all expectant women or people considering parenthood. The update acknowledges that advances in genetic knowledge have outpaced the previous guidelines, which suggested more limited screening – and only for certain ethnicities. Myriad Genetics, a leader in genetic testing and precision medicine, supports these new recommendations.

DocWire News spoke with Nicole Lambert, president of Myriad Genetic Laboratories, to put these updated guidelines in perspective and discuss what they mean for both providers and their patients.

DocWire News: What is carrier screening, and what is the importance of these recommendations?

Absolutely, so carrier screening really looks for when parents might be carriers of a recessive condition, a recessive condition is one where both parents have to be carriers to have an affected child. And I think what is so dangerous about recessive conditions is you often do not see a family history of them because maybe many generations have been carriers of these conditions, but they didn’t happen to marry someone else who was a carrier. So this gene could have been in the family for many, many, many, many generations, and no one knew about it and so it’s really important that we screen couples so that we can catch them earlier because just taking a family history won’t identify these types of conditions.

How vital is it to increase carrier screening access?

Really critical, I think. As I said, there’s really no other way to identify at-risk couples, right? Because you don’t see a family history and I think the ACMG has done a really thoughtful job of putting together their recommendation to say, “We only want to screen for things that are really severe conditions, where a couple might consider either early intervention for these conditions, delivering in a hospital that is a part of a large medical center, some couples may consider termination.” They really were thoughtful about making the recommendation such to say, “Let’s only screen for things that would make a meaningful impact on couples’ decision-making.”

How are pregnancies impacted when carrier screening is limited to only certain ethnicities? 

Well, often that the limitation of so-called “patients’ ethnicity” is that it’s self-reported. You ask the patient what their ethnicity is and honestly, they don’t always really know their total family history. So we find, as we’ve done research in our laboratory, the ethnicity that we find in those genetic samples is different than what the patient self-reported. If you rely on what the patient is reporting, sometimes you can miss risk that they were unaware of and so couples will go un-identified when you try to do really targeted testing. It’s much better, I think, for all patient populations to have access to carrier screening for all the different conditions and you see what you find.

Can you talk to us about some of the studies Myriad cited that support these recommendations?

Absolutely. Myriad has been a leader in these studies as we’ve looked at this product and really tried to identify how often do we find these conditions? We looked at that issue specifically, and how often do we find couples where their self-reported ethnicity is different than what we find in the laboratory and bringing that evidence forward to thought leaders in this field, whether part of the ACMG or part of ACOM is what helps them to set guidelines that are appropriate when they’re based on scientific research like that. We also did some studies on what would be the impact of patients’ decision-making process, so for at-risk couples that were found to be carriers, both parents were carriers for one of these recessive conditions, how would that impact their decision-making? I think it’s groundbreaking studies like this that point out and demonstrate the evidence that you can’t always rely on self-reporting and that this information is vital to couples’ decision-making, that they will do something with the results. Having this body of evidence helps guideline makers come to the right conclusions about what the recommendation should be.

Overall, what do these guidelines mean for providers and patients?

Well, I think for providers and patients, these guidelines, first of all, help to make this standard of care, that patients are offered this testing early in the pregnancy or before they get pregnant. That really is critical, I will say, just even myself as a mom and seeing couples go through this. When you’re trying to organize carrier screening. And then if you find something you’re trying to arrange a prenatal diagnosis and you’re under a time limitation, that can be really, really stressful for both the patient and the provider in terms of what options do we have and what decisions do we need to make quickly. These guidelines really support this making a standard of care and offering it earlier when the patients are not under any pressure to make a decision about an active pregnancy. They can identify their carrier status, if they’re found to be at risk, they have time to really think through, “Okay, do we want to pursue prenatal diagnosis? If we did, what would we do in the case that we were found to have an affected pregnancy?” You just have more time to think about those things rather than being rushed into something was done at the last minute and now we have fewer options.

Any closing thoughts?

I’m really are excited about these guidelines. I think Myriad has made a big push for inclusiveness of testing, making sure that all patient populations are served by the research that we do and the testing that we offer, so we couldn’t be more excited about these guidelines.