#238 Secondary Findings with Caralynn Wilczewski and Andrea Alvarez

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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.  

 

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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)