Category

Genetic Testing

CHEK2 Blog Post (3168 x 2020 px)

CHEK2-Associated Cancer Risk and Screening Recommendation Updates

August 19, 2024
Cancer Genetic Counseling Genetic Testing Health
Image description: cartoon of an individual with a large mustache, a top hat, and cape standing behind a brown and red booth holding test tubes in front of a crowd of stick fingers. The booth has a banner reading "DTC snake oil" at the top and signs that read "Tests 100% of the DNA!", "Test your infant for ALL health conditions!," and "Holiday sale today!" A white speech bubble reads "Step right up! We are the ONLY ones who can give you ALL the answers!"

Direct-to-Consumer is Direct-to-Chaos for Rare Disease Families

February 29, 2024
Advocacy Genetic Testing
Silhouettes of 44 people encircle the text, “Updated 23andMe test still misses moist people with BRCA1/2 hereditary cancer risks”. About 1 in 4 of the people are colored in red and the rest are colored in pink. The pink silhouette is intended to represent people who carry a BRCA1 or BRCA2 pathogenic variant that would be missed by the 23andMe test.

The Value of Knowledge and the Cost of False Reassurance: Understanding the Updates to 23andMe’s BRCA Genetic Testing

January 31, 2024
Cancer Genetic Testing News
cfDNA-term-post-Medium-Banner-US-Landscape

What’s in a (Noninvasive) Name?

January 18, 2024
Genetic Testing Pregnancy
A photo of a lightbulb

The Diagnosis Moment

October 31, 2023
Advocacy Genetic Counseling Genetic Testing Pregnancy
ART 2

Polygenic Embryo Screening: Genetic Counseling Perspectives and Commercial Incentives

September 29, 2023
Advocacy Assisted Reproductive Technology Genetic Counseling Genetic Testing
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Genetic Testing

CHEK2-Associated Cancer Risk and Screening Recommendation Updates

Cancer, Genetic Counseling, Genetic Testing, Health / By

Until last week, National Comprehensive Cancer Network (NCCN) guidelines reported that CHEK2 pathogenic variants (or risk-increasing genetic differences) are associated with an increased risk of colon cancer, citing a 5%-10% lifetime risk. NCCN recommended that carriers of a CHEK2 pathogenic variant begin colonoscopy screening earlier than typically recommended, at age 40, and repeat this screening …

CHEK2-Associated Cancer Risk and Screening Recommendation Updates Read More »

Silhouettes of 44 people encircle the text, “Updated 23andMe test still misses moist people with BRCA1/2 hereditary cancer risks”. About 1 in 4 of the people are colored in red and the rest are colored in pink. The pink silhouette is intended to represent people who carry a BRCA1 or BRCA2 pathogenic variant that would be missed by the 23andMe test.

The Value of Knowledge and the Cost of False Reassurance: Understanding the Updates to 23andMe’s BRCA Genetic Testing

Cancer, Genetic Testing, News / By

The recent update to 23andMe’s DTC test in September 2023 expanded their BRCA1/2 analysis to detect a total of 44 specific variants, including those evaluated previously1. This certainly will increase the detection of genetic variants in the BRCA1 and BRCA2 genes for individuals beyond those who are of Ashkenazi Jewish ancestry. However, given that there are thousands of genetic variants in these two genes that are associated with hereditary cancer risks, it is important to recognize that the updated 23andMe test will still miss the majority of people with BRCA-associated hereditary cancer risks.  

Polygenic Embryo Screening: Genetic Counseling Perspectives and Commercial Incentives

Advocacy, Assisted Reproductive Technology, Genetic Counseling, Genetic Testing / By

By Katie Stoll The Polygenic Embryo ELSI Research “PEER Group”, an NHGRI-funded research consortium that aims to build an initial framework for the consideration of the ethical, legal, and social implications (ELSI) of Polygenic Embryo Screening (PES), recently hosted a conference titled, Ready or Not? The Science and Ethics of Polygenic Embryo Screening. I was …

Polygenic Embryo Screening: Genetic Counseling Perspectives and Commercial Incentives Read More »

Mitochondrial Disease in the News; the darker reality of living with a rare disease

Advocacy, Genetic Testing / By

By Devin Shuman (she/her) Living life as a genetic counselor with mitochondrial disease may appear to mostly involve taking selfies with mitochondria jewelry and plushies from etsy. And while that might be a defining part of my rare disease lived experience, there are three current news stories that highlight the darker side of my rare …

Mitochondrial Disease in the News; the darker reality of living with a rare disease Read More »

LGBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation: Series 2: Nod towards Cisgender, Heterosexual couples

Advocacy, Genetic Testing / By

By Devin Shuman, MS, CGC and Jenny Rietzler, MS, CGC Hopefully after reading part one of our new series, LQBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation, you’ve reviewed the ASRM recommendations and realized that their failure at inclusivity extends far beyond their discriminatory practices …

LGBTQIA+ Discrimination and Eugenics in the American Society for Reproductive Medicine (ASRM) Guidelines for Gamete and Embryo Donation: Series 2: Nod towards Cisgender, Heterosexual couples Read More »

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