Genotypecast with Grey Genetics

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.

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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. The Hundred Years' War On Palestine: A History Of Settler Colonialism And Resistance, 1917–2017

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

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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.

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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.

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Related Articles and Resources

Writings by Dorothy Roberts

Sister Song

After Tiller. Documentary Film. 2013.

NSGC Code of Ethics

Pacia, Danielle M. "Reproductive Rights vs. Reproductive Justice: Why the Difference Matters in Bioethics." Bill of Health, Harvard Law Blog. November 3, 2020. 

“A Later Abortion Story.” Patient Stories interview with Erika Christensen and Garin Marschall 

Patient Forward

RHAVote.com

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.

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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

Find Barbara on LinkedIn

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

Cure Sickle Cell Initiative

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 [email protected]

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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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 [email protected]

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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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

ClinicalTrials.gov

My Retina Tracker Registry

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

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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

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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.)

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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. 

Brianne’s blog

Watershed DNA Resources & DNA Surprise Stories

Book an appointment with Brianne

Connect with Brianne and Watershed DNA on Social Media

Watershed DNA on Facebook

Brianne on Twitter@GCBrianne

Brianne is also newly on Instagram@GCBrianne

Brianne on LinkedIn

Grey Genetics on Twitter: @GreyGenetics

Grey Genetics on Instagram: @greygenetics

Grey Genetics on Facebook

Grey Genetics on LinkedIn

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

Black In Genetics (BIG)

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

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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:

Down Syndrome and Adoption as an Option: A Patient Stories interview with Stephanie Thompson of the National Down Syndrome Adoption Network

Unexpected Joys on the Scenic Route with Down Syndrome: A Patient Stories interview with Julie McConnel 

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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