#20- Revisiting Research: Implementation Science & Retrospective Chart Review

DNA Dialogues: Conversations in Genetic Counseling Research

In this episode, we talk with two authors who have papers featured in the special issue of the Journal of Genetic Counseling on Research Methods in Genetic Counseling. In the first segment we explore implementation science and its utilization in bridging the gap between research and clinical practice. In our second segment, we talk to an author about retrospective chart reviews and the benefits and drawbacks of this methodology.

Segment 1: A guide to utilizing implementation science for genetic counseling

Alanna Kulchak Rahm is a certified genetic counselor and implementation scientist with a PhD in Health and Behavioral Science. She has spent her career specializing in the implementation of genomics and precision health in healthcare systems. For over 25 years, she has conducted research on the utilization of genetic information by individuals and healthcare systems, new paradigms for identifying individuals with genomic risk, and new service delivery models for genomic testing. She has been a driver for the integration of implementation science and patient engagement to understand and study the integration of genomics into the learning health system, and is a tireless advocate of implementation science in genetic counseling. She has participated in and led many workshops and trainings on implementation science in genetics, serving as a faculty mentor for the NIH Training in Dissemination and Implementation Research in Cancer (TIDIRC) and recently as a co-lead of the Training in Dissemination and Implementation Research in Genomics and Precision Public Health (TIDIR-GPPH). She is currently a Program Director in the Division of Genomic Medicine at the National Human Genome Institute (NHGRI) where she directs the Network of Genomics-Enabled Learning Health Systems and other programs and continues to advance the integration of implementation science and genomics.

In this segment we discuss:

• Implementation science (IS) as a bridge between research and clinical practice in genetic counseling
• Misconceptions about IS, key frameworks like RE-AIM, and practical applications in daily work
• Using IS to identify and reduce inequities in genomic medicine
• Future integration of IS into training, research, and professional practice
• Link to the 2025 annual conference on dissemination and implementation

Segment 2: Leveraging hindsight: A retrospective chart review how-to for genetic counselors

Dr. Ramsey is the Section Chief of Individualized Therapeutics in the Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation at Children’s Mercy. She is leading the implementation of a pharmacogenomics program that is fully integrated with the electronic health record, developing model-informed decision support for several medications, and Co-director of their Pediatric Clinical Pharmacology Fellowship Program. Before joining Children’s Mercy, Dr. Ramsey was an Associate Professor and co-director of the Genetic Pharmacology Service at Cincinnati Children’s Hospital. She completed her postdoctoral fellowship in Pharmacogenetics at St. Jude Children’s Research Hospital and received her PhD in Molecular, Cellular, Developmental Biology and Genetics from the University of Minnesota – Twin Cities. Dr. Ramsey is interested in all aspects of pharmacogenetics, from basic research to implementation in patient care.

In this segment we discuss:

• The role of retrospective chart reviews in genetic counseling research
• Common pitfalls such as unclear aims, time demands, and data extraction challenges
• Strategies for success, including SOPs, REDCap, and multidisciplinary collaboration
• Lessons learned on refining criteria, ensuring data quality, and team engagement

Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.

Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.

For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.

Any questions, episode ideas, guest pitches, or comments can be sent into [email protected].

DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today’s Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Stephanie Schofield.