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Genetic Counseling: Why it matters and growing areas in genomic health
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Genetic Counseling: Why it matters and growing areas in genomic health

On making sense of genetic data once we have it

Christina Ren
Apr 12
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Genetic Counseling: Why it matters and growing areas in genomic health
healthandwealth.substack.com

Hi friends 👋

Welcome to Health & Wealth — your weekly source of the latest health research and biotech trends. Today's short post expands on my thoughts on emerging trends in clinical genomics and the future of genetic testing. If you are new, you can join here and share within your network — word-of-mouth is how I grow. Happy reading!


By far, the most cited graph to support the notion that the Age of Genomics has come is the dramatic decline in sequencing cost:

Graph: Sequencing Cost Per Genome

Cost decline is undoubtedly one crucial component of enabling a genomics-driven future. But in the context of human health, that alone is insufficient. What's so often overlooked is that getting lots of data cheaply is just the beginning — what matters for people is to make meaning of this new information.

I recognized this early on and became a genetic counselor to pursue the connection between the cutting-edge of genomic science and the humanity of counseling patients. Working with patients has grounded me in appreciating how innovation needs to create real value for patients rather than existing for the sake of innovation.

At its core, genetic counselors are master communicators of complex information and facilitators of complex human emotions. Genetic counselors can help you understand your genetic risks in the clinical setting and explore what kinds of genetic tests might be right for you. If you do testing, you can discuss what your genetic test results mean for you and your family and whether this information impacts your medical management or reproductive decisions.

The field of genetic counseling is still esoteric for most, so I welcome all questions from those interested in getting an insider’s understanding. I'd also like to highlight a recent podcast interview a fellow genetic counselor colleague did with ARK Invest. Emily Fassi is a lead oncology genetic counselor at the St. Luke's Cancer Institute — I first met her at a San Diego conference back in 2019 and we’ve stayed in touch since. Here, she expresses her passion for current practice and an open mind about how the cancer genetics space will (inevitably) evolve. Worth a listen!

3 fast-growing genomic segments to watch

Genomics evolves so quickly that it can feel like a moving target — it requires constant iteration in finding the intersection between what's scientifically possible and ethically feasible. Last fall, I wrote about three trends I believe will shape clinical genomics as we know it:

  1. Liquid biopsies will be used as first-line screening and diagnostic tests.

  2. Preimplantation genetic testing will continue to grow as awareness and access to IVF grow.

  3. Genetic risk evaluation will soon integrate monogenic risk variants with an individual's polygenic background.

You can read the full piece here. I also gave a talk on key trends in genetic counseling and personalized medicine and where the future is headed:


Thanks for reading! Online content is abundant and I'm grateful that you choose to spend a few minutes a week with me here on Health & Wealth.

If you’re new, subscribe for more insights on genomics and beyond — shared from the perspective of a genetic counselor:

Until next time,

Christina

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Genetic Counseling: Why it matters and growing areas in genomic health
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Barry Byrne
Apr 12Liked by Christina Ren

Thank you, Christina.

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