NSGC’s Progress on J.E.D.I. Action Plan Recommendations: An Update From the J.E.D.I. Stewardship Committee

10.17.2025

We both joined the NSGC J.E.D.I. Stewardship Committee as energized members and believers that everyone deserves to feel valued and supported. Our own backgrounds and identities, both visible and invisible, have invariably shaped our dedication to this cause. We wanted to help create spaces ...

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How Whole Genome Sequencing and Transcriptomics Are Transforming the Diagnostic Odyssey

10.7.2025

Whole-genome sequencing has expanded the diagnostic toolkit for rare disease, but many patients still face long, inconclusive testing journeys. This perspective highlights how pairing WGS with RNA sequencing can improve variant interpretation and diagnostic yield, especially in complex cases. With ...

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President's Message: October 2025

10.3.2025

I read for fun almost daily when I was growing up. In recent years, with life happening like we all have, I have not read as much as I’ve wanted to — and I’m working on changing that with a little reading each day. October happens to be National Book Month, so it is timely to highlight some ...

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Navigating ABCD1 Incidental Diagnoses in Adult Males

9.25.2025

When ABCD1 was added to the ACMG’s list of recommended secondary findings, it raised important questions about how we prepare patients for unexpected diagnoses. This article reflects on the lived experience of one family navigating an incidental finding of adrenomyeloneuropathy, a progressive ...

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ABCD1 in Population Screening: Nuances to Consider

9.25.2025

The addition of ABCD1 to the ACMG’s list of recommended secondary findings marks a significant shift in how X-linked adrenoleukodystrophy (X-ALD) is detected across the lifespan. With newborn screening already identifying affected infants in most U.S. states, the expansion into secondary findings ...

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Equity for Black Individuals in Genetic Counseling Requires More Than Intention

9.23.2025

Although the only Black woman in her genetic counseling educational cohort, Shannon Gray was no stranger to the experience of being the only Black person in academic spaces. She reflects on how she navigated this reality by intentionally building community through Black organizations and affinity ...

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Easing the Reanalysis Burden: A Lab-Driven Approach to Lifelong Exome Support

9.16.2025

Exome reanalysis is becoming a standard of care in rare disease genetics, but traditional workflows often place the burden on clinicians. In this article, Ambry Genetics introduces a lab-driven model that proactively reinterprets stored exome data, reducing administrative load and improving ...

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GenePool: A Discord Channel for Genetic Counselors Across Career Stages

9.11.2025

GenePool, a Discord server created by and for genetic counselors, has become a vital space for connection, mentorship and support across all stages of the profession. From navigating the graduate school application process to finding peers in nontraditional roles, the server offers real-time ...

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