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


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NCCN Guidelines & Expanded Recommendations for Germline Testing Based on Tumor Genomic Testing Results

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.

Tech News

Technology

News

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 ?
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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
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Prenatal Screening, False Positives, and NYT's Coverage

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


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
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A Conversation with a Palestinian Genetic Counselor

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 ?
Leave us a short voice message here! We may use your message on a future show.
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.
Grey Genetics on Twitter: @GreyGenetics
Grey Genetics on Instagram: @greygenetics
Grey Genetics on Facebook
Grey Genetics on LinkedIn</p

Later Abortions, Reproductive Justice, and Genetic Counselors’ Obligation to Speak Up

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 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
Grey Genetics on Facebook
Grey Genetics on LinkedIn

Addressing Health Disparities in Sickle Cell Disease

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
Grey Genetics on Facebook
Grey Genetics on LinkedIn

NCCN Guidelines & Expanded Recommendations for Germline Testing Based on Tumor Genomic Testing Results

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