Genotypecast with Grey Genetics
By Grey Genetics
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.
Genotypecast with Grey GeneticsSep 24, 2019
Prenatal Screening, False Positives, and NYT's Coverage
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.
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 ?
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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
A Conversation with a Palestinian Genetic Counselor
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:
The Jerusalem Declaration on Antisemitism
Recommended Readings:
Pappe, Ilan. Ten Myths About Israel
Pappe, Ilan. The Ethnic Cleansing of Palestine
Masalha, Nur. Palestine: A Four Thousand Year History
Barghouti, Omar. Boycott, Divestment, Sanctions: The Global Struggle for Palestinian Rights
Davis, Angela. Freedom Is a Constant Struggle: Ferguson, Palestine and the Foundations of a Movement
Erakat, Noura. Justice for Some: Law and the Question of Palestine
Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ?
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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
Later Abortions, Reproductive Justice, and Genetic Counselors’ Obligation to Speak Up
Certified genetic counselor Jordan Brown follows up on Katie Sagaser’s tweets exhorting genetic counselors to speak up for the importance of access to abortions in the third trimester and also to advocate for reproductive rights and reproductive justice more broadly.
Do you have questions or topics you’d like a genetic counselor to discuss on a future episode ?
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Related Articles and Resources
Writings by Dorothy Roberts
After Tiller. Documentary Film. 2013.
“A Later Abortion Story.” Patient Stories interview with Erika Christensen and Garin Marschall
Follow Katie Sagaser on Twitter: @katiesagaser
Connect with Jordan Brown on LinkedIn
Follow Dorothy Roberts on Twitter: @dorothyeroberts
Original tweets by Katie:
Genetic counselors can and SHOULD speak up on needs for 3rd tri abortion. Such a small % of professionals are qualified to speak on this- and we are in that %. That, my friends, makes you morally obligated. This right here is what advocacy looks like. It is past time to talk about methods for reproductive rights advocacy as #GeneticCounselors (and tbh all #HCPs). To promote autonomous and informed decisions for all, this includes advocacy for access to contraception and yes, late term abortion. You listening, #GCchat?
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
Addressing Health Disparities in Sickle Cell Disease
Certified genetic counselor Barbara W. Harrison discusses how racism impacts the health disparities in Sickle Cell Disease, gene therapies in development, and how these developments are being received by the Sickle Cell Disease Community.
Follow Barbara on Twitter: @Barb_DNA_GC
Related Articles and Resources:
Alexandra Power-Hays, M.D. and Patrick T. McGann, M.D. “When Actions Speak Louder Than Words — Racism and Sickle Cell Disease.” N Engl J Med 2020; 383:1902-1903
Farooq F. et al. "Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated with Research Productivity. "JAMA Netw Open. 2020; 3(3):e201737
Sickle Cell Disease Association of America
Patient Stories Podcast episode: “Invisible and Unpredictable” - interview with Mary Adenturinmo
"1st Patients To Get CRISPR Gene-Editing Treatment Continue To Thrive." Morning Edition, NPR News, December 15, 2020.
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. You can also email us at podcast@greygenetics.com
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
Race-Based Medicine is Bad Medicine
Elizabeth Fieg, MS, CGC expands on her recent Twitter thread, discussing the problems with using categories of race and ancestry to guide test selection in pharmacogenomics and more broadly in medical genetics. She explains how a broader approach to testing is more equitable and can also be more cost-effective.
Related Articles and Resources:
Follow Elizabeth on Twitter: @ElizFiegCGC
Elizabeth’s twitter thread on race and pharmacogenomics
Elizabeth’s interview for the AliveAndKickin podcast (09/30/20)
Brigham and Women’s Hospital’s Pharmacogenomics Clinic
Yudell M, et al. “NIH must confront the use of race in science.” Science 11 Sep 2020: Vol. 369, Issue 6509, pp. 1313-1314
Vyas DA, et al. “Hidden in Plain Sight — Reconsidering the Use of Race Correction in Clinical Algorithms.” August 27, 2020. New England Journal of Medicine. 2020; 383:874-882
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. You can also email us at podcast@greygenetics.com
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
The Promise of Gene Therapy in Ocular Genetics
Naomi Wagner, MS, CGC dives into the topic of gene therapy, explaining why ocular genetics is an especially promising area for gene therapy and how discussion of gene therapy with patients is a routine part of her practice in providing telehealth genetic counseling services for ocular conditions. She also provides some perspective on just how long it can take for a gene therapy to become available, genetic counselors’ actual and potential roles in gene therapy trials, and the ethical and social issues surrounding gene therapy.
Find Naomi on Twitter: @Naomi_CGC
Related Articles and Resources:
American Society of Gene and Cell Therapy
Global Patient Registry for Refsum Disease
CF Foundation Patient Registry
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
NCCN Guidelines & Expanded Recommendations for Germline Testing Based on Tumor Genomic Testing Results
Karen Huelsman MS, LGC discusses recent NCCN guideline updates which expand genetic testing criteria (for high-penetrance hereditary breast and/or ovarian cancer susceptibility genes) to include any mutation identified on tumor testing that has clinical implications if also identified in the germline. She discusses these updated recommendations in the context of the evolution of tumor genomic testing, commercially available paired tumor testing, and her role as a Precision Medicine Oncology Genetic Counselor.
Find Karen on Twitter: @Karen_GC_Cincin and on LinkedIn
Related Links and Resources
NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer (free to access but requires login)
Fassi, Emily. “NCCN Guidelines: Recent updates to the Genetic/Familial High-Risk Assessment for Breast, Ovarian, and Pancreatic Cancers (version 1.2021).” September 28, 2020. Grey Genetics News Corner.
TriHealth Genetic Counseling in Cincinnati, OH
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
When a NYT Article Stirs up Confusion about Reproductive Genetics
Certified genetic counselor Brianne Kirkpatrick discusses the recent New York Times article “When a DNA Test Says You’re a Younger Man, Who Lives 5,000 Miles Away.” How surprising is this story? What are the implications for law enforcement? Should a bone marrow or stem cell transplant recipient be worried about passing on their donor’s DNA rather than their own DNA to any children they may have? (Spoiler alert.. No… Brianne will explain why.)
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.
Article Discussed
Murphy, Heather. “When a DNA Test Says You’re a Younger Man, Who Lives 5,000 Miles Away.” New York Times, December 7, 2019.
Kirkpatrick, Brianne. “Responding to the New York Times coverage of the case of a bone marrow recipient with altered DNA results.” WatershedDNA blog. December 9, 2019.
Related Resources
Genotypecast episode - DNA Donations: Implications to Consider
Kirkpatrick, Brianne. “How to test your DNA (even if you’ve had a stem cell transplant).” WatershedDNA blog. November 13, 2018.
Kirkpatrick, Brianne. “Umbilical Cord Blood Donation and Ancestry Testing.” WatershedDNA blog. September 9, 2019.
Watershed DNA Resources & DNA Surprise Stories
Book an appointment with Brianne
Connect with Brianne and Watershed DNA on Social Media
Brianne on Twitter@GCBrianne
Brianne is also newly on Instagram@GCBrianne
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
Black in Genetic Counseling
Certified genetic counselor Deanna Darnes was the first Black student to graduate from her genetic counseling training program of The University of Texas Genetic Counseling Program (UTGCP) in 2010. Ten years later, there are over 5,000 genetic counselors in the United States, yet fewer than 50 are Black. Deanna discusses how whataboutisms can derail efforts to increase these numbers, recruitment strategies, and the new organization Black in Genetics (BIG), dedicated to amplifying the voices and work of Black-identifying geneticists across the U.S. and beyond.
Follow Deanna on Twitter: @furiousATGC
Black in Genetics on Twitter: @BlackInGenetics #BlackInGenetics
Related books recommended by Deanna:
Medical Apartheid: The Dark History of Medical Experimentation on Black Americans from Colonial Times to the Present, by Harriet A. Washington
White Fragility: Why It's So Hard for White People to Talk About Racism, by Robin DiAngelo and Michael Eric Dyson
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!
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
ACOG Now Recommends that NIPS be offered to all pregnant women
Certified genetic counselor Emily Goldberg discusses the new ACOG guidelines related to Screening for Fetal Chromosomal Abnormalities. ACOG (The American College of Obstetrics and Gynecology) now recommends that NIPS (Non-Invasive Prenatal Screening) be offered to all women, rather than to only women with higher risk pregnancies. Emily also reviews current use and practices related to NIPS, its benefits and limitations.
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 & Resources:
ACOG Practice Bulletin #226: “Screening for Fetal Chromosomal Abnormalities,” Obstetrics and Gynecology. Vol 136, No. 4. October 2020. (Behind paywall)
“ACOG Guidelines Recommend NIPT for All Pregnancies Regardless of Risk” Genome Web. August 17, 2020.
Resources related to Down Syndrome
The National Down Syndrome Adoption Network
National Down Syndrome Society
“Genetic Testing and the Rush to Perfection,“ National Council on Disability, October 23, 2019.
“National Council on Disability Recommends More Regulation of NIPT.” Genome Web, October 23, 2019.
Related Grey Genetics News Corner blog posts:
Kamp, Bailey. “Mitigating Misinformation: Spreading Awareness for Down syndrome”
Landucci, Kelly. “NIPS: More Thank Just a Sex Reveal”
Thompson, Stephanie. “Adoption as an Option: The National Down Syndrome Adoption Network”
Related Patient Stories podcast episodes:
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
Structural Racism in Genetic Testing
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:
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.
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
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
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.
Cascade Testing: Can Telehealth Help Make it Happen?
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:
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?
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
ACMG Opposition to HR 3235—and the Backlash
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
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
- Adverse Events in Cancer Genetic Testing: the third case series
- Adverse Events in Genetic Testing: The Fourth Case Series
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
Grey Genetics on Instagram: @greygenetics
George Church’s DigiD8 Brings Eugenics to Dating Apps
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
Panel Testing: Insurance Coverage and Clinical Utility
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
Carrier Screening Panels are Getting Bigger… Is that Better?
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
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.
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. 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
DNA Donations: Implications to Consider
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.