We want to take a moment to express our appreciation to all our incredible listeners. We have been enjoying getting to know some of you through our Patreon. As a patron you can gain benefits that take your DNA Today experience to the next level including our exclusive monthly club, behind the scenes podcast views, input on future episodes including interview questions, one on one mentorship with me, physical merch, and more!

Speaking of our patrons, we want to give a special shoutout to some awesome listeners who have already joined us: Matthew, Hannah, Lynn, Sanya, Molly, Emily, Amanda, Ash, Cristina, and Wesley. Your support means the world to us, and we couldn't be more grateful for your contribution. It helps support the show and builds our engaging community. So join us here!

In this episode we are discussing secondary findings and a study exploring what they mean for the patients who receive them.

Joining us for this discussion is Caralynn Wilczewski who is a genetic counselor for the Reverse Phenotyping Core and the Genomic Services Research Program in the National Human Genome Research Institute in the National Institutes of Health. In her current role, she provides genetic counseling and coordinates clinical research that uses a genotype-first approach to advance the goal of predictive genomic medicine. She obtained her bachelor’s in Molecular Biology with Honors from Loyola University Chicago and her PhD in Genetics and Molecular Biology from University of North Carolina at Chapel Hill. She then obtained a Master’s degree in Genetic Counseling from the joint program at Johns Hopkins University and the National Institutes of Health.

Also joining us is Andrea Alvarez, a participant in the Genomic Services Research Program. Andrea joined a genetic sequencing study at Morehouse College and received an unexpected genetic test result which Alvarez will discuss in this episode!

In this episode we are discussing secondary findings, and a study exploring what they mean for the patients who receive them. Stay tuned as we will have another secondary findings installment coming soon to DNA Today!

On This Episode We Discuss:

Population health studies and how they help us understand the role of genetics in disease risk and prevention
Secondary findings and how someone might receive one
Opting in/out regarding the reveal of secondary findings in population health studies
What happens after someone finds out they have one of these unexpected genetic risk factors

Andrea’s experience with receiving a surprising secondary finding and how it has impacted her life

Support and next steps for people after the receive a secondary finding
The Genomic Services Research Program’s study for patients with secondary findings and what it can offer to folks who participate
How we can ensure that population health studies related to genetics are conducted in a way that is inclusive and representative of diverse populations

If you’d like to learn more about secondary findings, check out the ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing and this news article!

Join or refer a patient to the Genomic Services Research Program (GSRP) study on secondary findings by filling out this survey. More resources below!

Secondary findings resources for listeners: Clinicians

List of ACMG secondary findings genes

ClinGen Actionability Knowledge Repository: Search by gene or condition for brief summaries of most secondary findings conditions and risks with recommendations for surveillance, management, and treatment.

ACMG ACT sheets: Short summaries of a few secondary findings genes and conditions with instructions on next steps for clinicians whose patients receive one of these results.

Secondary findings resources for listeners: Patients

MedlinePlus Genetics: What are secondary findings from genetic testing?

MedlinePlus Genetics: Patient-friendly information about genetic conditions and how genes can play a role in our health.

If you’re interested in learning more about the Genomic Services Research Program and their study about secondary findings, please email them (gsrp@NIH.gov), call or text 240-408-0447, or visit genome.gov/GSRP.

Stay tuned for the next new episode of DNA Today on June 2nd, 2023 where we’ll be joined by Janice Berliner to discuss her latest novel, In Good Conscience, a genetics novel! New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in episodes 208, 210, and 237 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription, that’s a discount of 80% exclusively to DNAToday listeners. Go check it out at trakgene.com. (Sponsored)

Did you know that among patients with documented mild cognitive decline, about one-third progress to a diagnosis of Alzhiemer’s Disease? As the Alzheimer’s and dementia field evolves, new diagnostics are being developed working to provide answers in more and more accessible ways. Quest Diagnostics is leading the way in making Alzheimer's testing accessible through assessing biomarkers like ApoE isoforms and Beta-Amyloid plaques with blood instead of spinal fluid. Learn more about Alzheimer's Disease including Quest Diagnostics’s newest risk assessments in DNA Today’s Episode 236. Learn more about Quest’s tests here. (Sponsored)

As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)

#238 Secondary Findings with Caralynn Wilczewski and Andrea Alvarez 54:11 Share

DNA Today: A Genetics Podcast

Shownotes Transcript

#238 Secondary Findings with Caralynn Wilczewski and Andrea Alvarez