Sharing Genetic Data in Clinics, Ethics and Pediatrics

Ann Nguyen:
Hello, I'm Ann Nguyen, Senior Associate Conference Producer with Cambridge Healthtech Institute. Today, we have a podcast interview for the Clinical Genomics and Open Source Innovations conferences, part of the 2016 Bio-IT World Conference & Expo, which returns to Boston, Massachusetts this April 5-7. We're chatting with Dr. Samantha Schrier Vergano, Division Director of Medical Genetics and Metabolism at Children's Hospital of The King's Daughters.

Hi Samantha, nice to have you joining us today.

Samantha Schrier Vergano:
Thanks for having me.

Ann Nguyen:
Why have you focused on medical genetics with the pediatric angle for much of your research? What human health problems do you hope your work will help solve?

Samantha Schrier Vergano:
I actually was trained in pediatrics, so that's kind of why I am doing this now. At least for genetics, when there's a lot of technological aspects to some of the work that we do, I think it's important, especially for families who have children with rare diseases or diagnostic dilemmas, that we still remember that they're kids and that they need a pediatric avenue to helping some of the families out with the difficult issues. It's still science, but it's more kids related.

Ann Nguyen:
Once you have a subject's sequenced genetic data and have detected variants, what are the biggest challenges you still face when validating their clinical utility?

Samantha Schrier Vergano:
I think it's different depending on what kind of an institution you're at, because we send out a lot of the testing. We'll get other institutions’ analyses on the reports, and it's up to us to look at the child and say whether or not the results are consistent with their clinical phenotype, or the issues that the child has going on. We can always go back to the lab or the institution and say can you re-analyze things, or can you look at things again, but ultimately I think our challenge on our end is looking at them from a medical perspective in their clinical issues, and seeing whether or not the answers we've gotten are true and unrelated, or if they definitely causative and whether or not they offer any answers for the child and for the family. I think that's probably, from our end, the most difficult part.

Ann Nguyen:
When it's time to share genetic data in clinical settings, particularly with secondary findings, ethical quandaries sometimes arise -- something you'll address during your presentation, "Military Health Care Dilemmas and Genetic Discrimination: A Cautionary Tale of One Family’s Experience with Whole-Exome Sequencing", on April 7. Do you foresee any solutions, or at least reasonable compromises, that will balance the advancement of science with the protection of patient privacy?

Samantha Schrier Vergano:
I'm not very savvy when it comes to politics, but I would, in an ideal world, love if we had some sort of government intervention that protects people in the military from a medical standpoint, kind of like we do the Genetic Information Nondiscrimination Act. I don't think that probably will end up going that way anytime soon, but at least the particular family that we'll be talking about, they're healthcare providers and one of them happens to be in the military. It's a little bit different, but I think any way that we can prevent bias or prejudice from the standpoint of people being either out of their jobs or not getting the benefits from whatever organization they're in, I think that that'll ultimately protect people. It becomes less of a privacy thing and more just of a, are you able to function in your job and provide for your family the way you need to if you're not getting the protections from the agencies, or the corporations that you're with, ultimately.

Ann Nguyen:
Thank you, Samantha. We're looking forward to hearing more insights and data from you later at the conference.

Samantha Schrier Vergano:
Likewise, thank you.

Ann Nguyen:
That was Dr. Samantha Schrier Vergano of Children's Hospital of The King's Daughters. She'll be speaking during a shared session for the Clinical Genomics and Open Source Innovations conferences (Tracks 10 and 11) at Bio-IT World Conference & Expo, taking place April 5-7 in Boston. To learn more from her, visit www.bio-itworldexpo.com for registration info, and enter the keycode “Podcast”.

This is Ann Nguyen. Thanks for listening.