Genotypecast with Grey Genetics – Détails, épisodes et analyse

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Genotypecast with Grey Genetics

Grey Genetics

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Fréquence : 1 épisode/49j. Total Éps: 18

Genetics isn’t always black and white. News stories related to genetics often raise more questions than they answer. On Genotypecast, we bring you insight from genetic counselors. Your host, Eleanor Griffith, MS, CGC, is a certified genetic counselor and the founder of Grey Genetics, an independent telehealth genetic counseling and consulting service.

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Prenatal Screening, False Positives, and NYT's Coverage

jeudi 6 janvier 2022 • Durée 32:22

On January 1, 2022, the New York Times published an article focused on the high false positive rates of micro-deletions and -duplications in non-invasive prenatal screening tests NIPS/NIPT. The article was entitled, “When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong.” The reaction on Twitter from genetic counselors was mostly negative and critical. I discussed this article and genetic counselors’ reaction to it with certified genetic counselor Katie Stoll.

Articles/Podcasts Discussed:

Kliff, Sarah and Aatish Bhatia. “When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong.” New York Times, January 1, 2022.

“An Investigation into Flawed Prenatal Tests: How screening for chromosomal abnormalities that promised ‘peace of mind’ instead caused anguish and confusion.” The Daily Podcast, New York Times. January 4, 2022.

Katie’s tweet related to genetic counselors’ backlash to the article on Twitter.

Related Articles and Resources:

Skoto, et al. “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.” Genetics in Medicine. April 3, 2019.

Table of adherence to 2016 ACMG guidance for NIPS laboratories. Prenatal Information Research Consortium.

Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. October 2020.

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Landucci, Kelly. “NIPS: More Than Just a Sex Reveal.” Grey Genetics News Corner. April 22, 2019.

Find Katie on Twitter @katie_stoll, LinkedIn, and on The DNA Exchange.

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 LinkedIn

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A Conversation with a Palestinian Genetic Counselor

Épisode 17

vendredi 28 mai 2021 • Durée 23:36

Hebbah Sayed-Ahmad is a Palestinian American prenatal genetic counselor. She shares her experiences as a Palestinian within the genetic counseling profession. She also discusses what has been described as a medical apartheid in Palestine and how

the restriction of movement of Palestinians within the Occupied Territories contributes to healthcare disparities and specifically impacts genetic risks, such as those associated with consanguinity and endogamy. She shares her perspective on the importance of advocating for justice and taking a stand against discrimination and racism, regardless of which group of people is being targeted.

Find Hebbah Twitter: @TheDNArab

Sayed-Ahmad, Hebbah. “An Invisible Minority.” Perspectives. Quarter 2, 2021

Related Resources:

Decolonize Palestine: FAQ

The Jerusalem Declaration on Antisemitism

Recommended Readings:

Pappe, Ilan. Ten Myths About Israel

Pappe, Ilan. The Ethnic Cleansing of Palestine

Khalidi, Rashid.

Structural Racism in Genetic Testing

Épisode 9

mardi 23 juin 2020 • Durée 19:17

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:

Cascade Testing: Can Telehealth Help Make it Happen?

Épisode 8

mardi 18 février 2020 • Durée 15:08

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.

Changing and discrepant variant classifications: Can you trust genetic testing results?

Épisode 7

mardi 21 janvier 2020 • Durée 21:32

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.” 2014 Aug;147(1):119-32.

ACMG Opposition to HR 3235—and the Backlash

Épisode 6

lundi 20 janvier 2020 • Durée 20:57

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

George Church’s DigiD8 Brings Eugenics to Dating Apps

Épisode 5

mercredi 18 décembre 2019 • Durée 23:02

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.

Panel Testing: Insurance Coverage and Clinical Utility

Épisode 3

mercredi 6 novembre 2019 • Durée 19:17

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.

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

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Carrier Screening Panels are Getting Bigger… Is that Better?

Épisode 2

vendredi 25 octobre 2019 • Durée 11:56

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"

Are you looking for genetic counseling? Grey Genetics is an independent telehealth genetic counseling and consulting company. 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.

DNA Donations: Implications to Consider

Épisode 1

mardi 24 septembre 2019 • Durée 18:09

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. “.” Huffington Post. December 6, 2017.

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Genotypecast with Grey Genetics – Détails, épisodes et analyse

Détails du podcast

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