Certified genetic counselor Aishwarya Arjunan, MS, MPH, CGC, CPH expands on her recent tweet, which got a lot of attention from genetic counselors on Twitter:

I always use myself as an example, why should I get a test with a 55% detection rate for CF-23 while someone who is AJ has a 97% detection rate. We're both paying our insurance premiums/deductibles, why do I get a lower quality screen based on my ethnicity/race?

For context, Aishwarya is of South Asian ancestry. She discusses how outdated practice guidelines related to carrier testing are reflective of structural racism.

Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ? Leave us a short voice message here! We may use your message on a future show.

Aishwarya’s Twitter Thread

Resources Related to Carrier Screening:

Genetic Support Foundation: Prenatal Carrier Screening

Access to Expanded Carrier Screening Coalition (AECS)

Findageneticcounselor.com: NSGC’s directory to find a genetic counselor in your area:

Sarnoff Center for Jewish Genetics: Carrier Screening

JScreen on Carrier Screening

Grey Genetics Resources:

Piet, Valerie. “Expanded Carrier Screening & Frequently Asked Questions.” Grey Genetics News Corner Blog Post.

Grey Genetics: Prenatal Genetics

Patient Stories Podcast: “A Short Life with Tay Sachs & Advocating for Preconceptual Carrier Screening.”

Find Aishwarya on Twitter! @aishuarjun

Grey Genetics on Twitter: @GreyGenetics

Grey Genetics on Instagram: @greygenetics

Grey Genetics on Facebook

Grey Genetics on LinkedIn

Would you like to speak with a genetic counselor about carrier screening options or another area of concern? Grey Genetics is an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

One of the benefits of identifying hereditary cancer mutations in individuals is Cascade Testing—being able to offer targeted testing to family members to identify others who are at high risk as well as those who are average risk. Yet historical studies suggest that the uptake of cascade testing is 30% or less.

Certified genetic counselor Francesca Tubito was co-author of a study recently published in The Journal of Clinical Oncology that tested the feasibility of a streamlined method of cascade testing using direct contact of family members by healthcare providers, telephone genetic counseling, and (free/sponsored) saliva-based genetic testing mailed to family members’ homes.

Francesca discusses the success of the study as measured by uptake of testing among at-risk-relatives a well as the challenges in implementing this approach on broader scale.

Study Discussed:

Frey MK, Kahn RM, Chapman-Davis E, et al. Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.” J Clin Oncol. 2020 Jan 10:JCO1902005. (Behind Paywall)

Francesa on LinkedIn

Francesca on Twitter: @FrancescaTGCA

Related Articles & Resources

NIH NCI definition of Cascade Testing

“Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?” CDC Blog Post. May 2018.

ACOG Committee Opinion Number 727. January 2018. “Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer."

The Wall Street Journal recently profiled a family whose BRCA2 variant was reclassified—from Pathogenic to a Variant of Uncertain Significance. This difference in classification has important implications for medical management recommendations. The family profiled, however, made irreversible decisions years ago, based on the Pathogenic classification provided at the time. Certified genetic counselor Ann Jeffers Brown discusses how common these changes in classification are, as well as some of the work that goes into variant classification.

Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ? Leave us a short voice message here! We may use your message on a future show.

Related Links

Dockser Marcus, Ann. “A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then the Odds Changed.” The Wall Street Journal. December 20, 2019.

Center for Genomic Interpretation: a nonprofit with a mission to drive quality in clinical genetics, genomics and Precision Medicine

Eggington, JM et al. “A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.” Clin Genet. 2014 Sep;86(3):229-37.

Pruss, D, et al. “Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.” Breast Cancer Res Treat. 2014 Aug;147(1):119-32.

Julie Eggington on Twitter: @Dr_J_Eggington

Laura Hercher’s related Twitter thread

On January 9, the American College of Medical Genetics sent a letter to members of the House of Representatives, voicing their opposition to HR 3235, a bill that would allow genetic counselors to be reimbursed by CMS for providing genetic counseling. The ACMG recommended additional language related to the scope of practice of genetic counselors, most notably opposing the ordering of genetic tests by genetic counselors.Ellen Matloff, a certified genetic counselor and the founder and CEO of My Gene Counsel, discusses the historical and social context for this opposition and explains why she sees this as part of a broader #MeToo moment in genetic counseling.

Related Links and Resources

ACMG Letter to Congress

Grey Genetics blog post article on Medicare and HR 3235: “Does Medicare Cover Genetic Counseling?”

H.R.3235 - Access to Genetic Counselor Services Act of 2019

Erica Ramos’ (Past NSGC President) twitter thread on GCs and test ordering

Stoll, Katie. “Is There A Doctor in the House? Physician-Mediated DTC Genetic Testing.” The DNA Exchange. January 6, 2020.

Adverse Events in Genetics Testing: A Case Series

My Gene Counsel

NSGC Resources to Advocate for H.R.3235

Are you looking for genetic counseling?

Grey Genetics is an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone.

Grey Genetics on Twitter: @GreyGenetics

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Certified genetic counselor Katya Orlova discusses George’s Church’s new venture, DigiD8, which aims to add a new layer to how people match on dating apps: preventing matches between individuals who are both carriers for the same autosomal recessive condition. (DigiD8’s tagline? “Science is your wingman.”) Is it eugenics? Could any good come out of it? What are the implications for disability rights as well as genetic data privacy and security. Do we want genetic testing to inform who we meet and with whom we may or may not have any children? 

Follow Katya on Twitter: @KOsnp 

Related Articles & Links 

FAQ response from George Church Park, Andrea. “Harvard geneticist developing DNA-based dating app to eliminate genetic disorders.” Becker’s Hospital Review. December 9, 2019. 

Flynn, Meagan. “A Harvard scientist is developing a DNA-based dating app to reduce genetic disease. Critics called it eugenics.“ Washington Post. December 13, 2019. 

Regalado, Antonio. "Here are some actual facts about George Church’s DNA dating company.” MIT Technology Review. December 11, 2019. 

Montgomery, Blake. “Harvard Scientist Thinks It’s ‘Ludicrous’ to Compare His Genetics-Based Dating App to Eugenics.” The Daily Beast. December 14, 2019. 

Hercher, Laura. “Is Genetic Medicine Making the World Less Fair?” The Nation. August 23, 2019. Dor Yeshorim 

Interested in hearing from someone who is living with Cystic Fibrosis or who has lost a child to Tay Sachs? Check out these Patient Stories episodes: Defying Cystic Fibrosis One Mountain at a Time, with Sophie Grace Holmes 

A Short Life with Tach Sachs and Advocating for Preconceptual Carrier Screening, with Shannon Miller 

Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ? Leave us a short voice message here! We may use your message on a future show. 

Are you looking for genetic counseling? Grey Genetics is an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. 

Grey Genetics on Twitter: @GreyGenetics 

Grey Genetics on Instagram: @greygenetics 

Grey Genetics on Facebook 

Grey Genetics on LinkedIn

Certified genetic counselor Kate Wilson discusses both clinical care and insurance billing and coverage issues surrounding gene panel testing. Numerous studies have shown higher positive rates when testing with larger panels. Why do higher positive rates not necessarily lead to better insurance coverage? What will it take to get data showing a reduction in morbidity and mortality and demonstrating utility for medical management? Kate also provides insight into the complexities of billing for panels and the downsides of low-self pay pricing within an insurance-based healthcare system. 

Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ?Leave us a short voice message here! We may use your message on a future show. 

Related Articles 

Robson M, Domchek S. “Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility—Pandora’s Box Is Opening Wider.” JAMA Oncol. October 3, 2019.  

Ray, Turna. “Concert Genetics Launches Software to Limit Coding Variability in Genetic Testing.”Genome Web. September 6, 2019.  

Follow Kate on Twitter 

Connect with Kate on LinkedIn

On this second episode of Genotypecast, certified genetic counselor Amber Gamma discusses the continued expansion of Universal Carrier Screening panels—business motivations, clinical utility, impact on patient care, and some of the risks and complications of interpretation that come along with this new era of expanded carrier screening.

Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ? Leave us a short voice message here! We may use your message on a future show.

Related Articles and Resources

American College of Obstetricians and Gynecologists (ACOG). Carrier screening in the age of genomic medicine. ACOG Committee Opinion No. 690. Obstet Gynecol. 2017;129:e35-e40.

Fridman H, Behar DM, Carmi S, et al. "Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants." Genetics in Medicine. October 17, 2019.

ACOG Carrier Screening FAQ

Grey Genetics Resources

Basic Information on prenatal genetic screening and diagnostic testing

"Expanded Carrier Screening and Frequently Asked Questions" 

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On this first episode of Genotypecast, certified genetic counselor Brianne Kirkpatrick of Watershed DNA reviews two recent news stories related to cord blood and sperm donations, discussing the risks and unknowns associated with each as well as the implications for society at large.

Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ? Leave us a short voice message here! We may use your message on a future show.

Articles Discussed

Thayer, Kate. “Umbilical cord blood saved Chicago woman’s life more than 20 years ago. Now she’ll meet the family who donated it.” Chicago Tribune. September 5, 2019.

Cha, Ariana Eunjung. “The Children of Donor H898.” Washington Post. September 14, 2019.

Related Articles

Kirkpatrick, Brianne. “Umbilical Cord Blood Donation and Ancestry Testing.” WatershedDNA blog.  September 9, 2019.

Zhang, Sarah. “A Woman’s AncestryDNA Test Revealed a Medical Secret.” The Atlantic. September 13, 2019.

Johnson, Louise. “Removing donor anonymity retrospectively in Victoria, Australia – two years on.” Bio News. May 13, 2019.

Kramer, Wendy. “There Are No Laws Prohibiting Donor Recipients From Reaching Out To Donors.” Huffington Post. December 6, 2017.