May 6, 2022: ELSIconversations: Utility of Population Descriptors in Clinical Genetics

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Register to attend the upcoming ELSIconversations discussion, titled “Utility of Population Descriptors in Clinical Genetics.”

Register Here

When: May 6, 2022 from 12:00-1:00 pm ET/9:00-10:00 am PT

Question: What is the most important information, conceptually, for clinical genetics professionals to do their jobs well? Is the information always necessary; if not, when is it critical vs. extraneous? When is it potentially harmful?

Goal: Distill the most relevant information among population descriptors that serves a purpose in the clinical curation pipeline, or other clinical genetics work

Speakers:

Moderator: Shoumita Dasgupta, PhD

Please watch the above videos before attending the discussion (click on each title next to speaker names above to access the video). During the session, the presenters will answer questions about their research and take part in an open discussion with all attendees. Please bring your questions, join the discussion, and expect to network with your colleagues. We hope you will make new connections and start new conversations on ELSI research.

NHGRI virtual Louise M. Slaughter National DNA Day Lecture

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DNA DayToday, April 25, is National DNA Day, which commemorates the completion of the Human Genome Project in 2003 and the discovery of DNA’s double-helical structure in 1953. Please join the NHGRI today from 1:00 PM to 2:00 PM ET for the virtual Louise M. Slaughter National DNA Day Lecture. This year’s speaker is Carter Clinton, Ph.D., postdoctoral scholar at Pennsylvania State University in the Departments of Anthropology and Biology. He will share his research, which looks to the past to improve our understanding of health disparities in African Americans today, with an emphasis on the importance of diversity in genomic databases. A moderated Q&A session will follow the presentation.

Registration is required: https://nih.zoomgov.com/webinar/register/WN_I-3DVmNJQBivjrSCb_IcDw

The annual Louise M. Slaughter National DNA Day Lecture honors the life and legacy of the late Representative Louise M. Slaughter (D-N.Y.). Congresswoman Slaughter was a strong advocate for genomics research, and her tireless work on the Genetic Information Nondiscrimination Act (GINA) helps protect Americans from discrimination in health insurance and employment based on genetic information. She was also responsible for passing the 2003 concurrent resolution in the U.S. House of Representatives that created National DNA Day.

For additional information, visit the lecture event page (https://www.genome.gov/20519689/celebrate-dna-day-with-nhgri/#2)

Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study

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Liewei Wang 1, Steven E Scherer 2, Suzette J Bielinski 3, Donna M Muzny 4, Leila A Jones 5, John Logan Black 3rd 6, Ann M Moyer 6, Jyothsna Giri 5, Richard R Sharp 7, Eric T Matey 8, Jessica A Wright 8, Lance J Oyen 8, Wayne T Nicholson 9, Mathieu Wiepert 10, Terri Sullard 5, Timothy B Curry 11, Carolyn R Rohrer Vitek 5, Tammy M McAllister 5, Jennifer L St Sauver 12, Pedro J Caraballo 13, Konstantinos N Lazaridis 14, Eric Venner 4, Xiang Qin 15, Jianhong Hu 4, Christie L Kovar 4, Viktoriya Korchina 4, Kimberly Walker 4, HarshaVardhan Doddapaneni 15, Tsung-Jung Wu 4, Ritika Raj 4, Shawn Denson 4, Wen Liu 4, Gauthami Chandanavelli 4, Lan Zhang 4, Qiaoyan Wang 15, Divya Kalra 15, Mary Beth Karow 6, Kimberley J Harris 6, Hugues Sicotte 6, Sandra E Peterson 6, Amy E Barthel 6, Brenda E Moore 6, Jennifer M Skierka 6, Michelle L Kluge 6, Katrina E Kotzer 6, Karen Kloke 6, Jessica M Vander Pol 6, Heather Marker 5, Joseph A Sutton 10, Adrijana Kekic 16, Ashley Ebenhoh 8, Dennis M Bierle 13, Michael J Schuh 17, Christopher Grilli 16, Sara Erickson 18, Audrey Umbreit 19, Leah Ward 17, Sheena Crosby 17, Eric A Nelson 16, Sharon Levey 20, Michelle Elliott 21, Steve G Peters 22, Naveen Pereira 23, Mark Frye 24, Fadi Shamoun 25, Matthew P Goetz 26, Iftikhar J Kullo 23, Robert Wermers 27, Jan A Anderson 8, Christine M Formea 8, Razan M El Melik 8, John D Zeuli 8, Joseph R Herges 8, Carrie A Krieger 8, Robert W Hoel 8, Jodi L Taraba 8, Scott R St Thomas 5, Imad Absah 28, Matthew E Bernard 29, Stephanie R Fink 30, Andrea Gossard 31, Pamela L Grubbs 32, Therese M Jacobson 32, Paul Takahashi 30, Sharon C Zehe 33, Susan Buckles 34, Michelle Bumgardner 32, Colette Gallagher 34, Kelliann Fee-Schroeder 5, Nichole R Nicholas 5, Melody L Powers 35, Ahmed K Ragab 5, Darcy M Richardson 5, Anthony Stai 10, Jaymi Wilson 5, Joel E Pacyna 7, Janet E Olson 36, Erica J Sutton 7, Annika T Beck 7, Caroline Horrow 7, Krishna R Kalari 37, Nicholas B Larson 37, Hongfang Liu 38, Liwei Wang 38, Guilherme S Lopes 39, Bijan J Borah 40, Robert R Freimuth 38, Ye Zhu 41, Debra J Jacobson 37, Matthew A Hathcock 37, Sebastian M Armasu 37, Michaela E McGree 37, Ruoxiang Jiang 37, Tyler H Koep 42, Jason L Ross 42, Matthew G Hilden 42, Kathleen Bosse 42, Bronwyn Ramey 42, Isabelle Searcy 42, Eric Boerwinkle 43, Richard A Gibbs 44, Richard M Weinshilboum 45
Affiliations

Advancing Implementation Science in Precision Public Health: Balancing Dynamism, Evolution and Sustainment

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UNC webinarVirtual webinar with Dr. David Chambers from the National Cancer Institute

“Advancing Implementation Science in Precision Public Health: Balancing Dynamism, Evolution and Sustainment”

April 27, 2022, 2-3p.m. ET

Register: https://pharmacy.unc.edu/pharmsciconference/

Co-hosted by the Future Leaders in Precision Public Health and the CDC Office of Genomics and Precision Public Health

 

 

IGNITE’s GUARDD pilot study determines effects of testing genetic risk for kidney failure

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GUARDDThe Implementing GeNomics In practice (IGNITE) Pragmatic Clinical Trials Network’s GUARDD-US study has published their main outcomes paper of the pilot study, whose aim is to determine the effect of returning Apolipoprotein L1 (APOL1) genetic risk information to hypertensive African ancestry patients.

“Effects of Testing and Disclosing Ancestry-Specific Genetic Risk for Kidney Failure on Patients and Health Care Professionals,” was published in JAMA Network Open in March 2022.

Chronic kidney disease (CKD) affects 26 million US adults.1 Individuals of African ancestry have a higher risk of CKD and end-stage kidney disease compared to individuals with European ancestry owing to social determinants, clinical factors, and health system factors.1–3 Race and ethnicity are social constructs, but ancestry has some biological underpinnings. The high-risk genotypes in the APOL1 gene are found in 1 of 7 people of African ancestry.

Through the randomized clinical trial, 2050 patients of African ancestry with hypertension without chronic kidney disease in which genetic testing results were disclosed to patients and clinicians, patients with high-risk APOL1 genotypes had greater improvement in blood pressure from baseline and more lifestyle changes compared with patients with low-risk APOL1 genotypes or control patients.

“Disclosing APOL1 genetic testing results to patients of African ancestry with hypertension and their clinicians was associated with a greater reduction in systolic blood pressure, increased kidney disease screening and positive self-reported behavior changes (eg, taking blood pressure medications regularly) in those with genetic high risk,” said Carol Horowitz, MD, MPH, Professor of Population Health Science and Policy and Medicine at Icahn School of Medicine at Mount Sinai.

Researchers have found that disclosing these genetic testing results ultimately are a benefit to patients.

“These results suggest we are headed in the right direction. Genetic testing is a particularly sensitive issue for the African American community. African Americans have a higher risk of kidney disease development and progression. While race is a social construct, and this disparity is multifactorial and structural, ancestry has genetic components,” said Girish N. Nadkarni, MD, MPH, the Irene and Dr. Arthur M. Fishberg Professor of Medicine at Icahn Mount Sinai and the lead author of the study. “For many years, researchers have wondered whether reporting APOL1 genetic test results would help improve clinical management. This is the first pragmatic randomized clinical trial to test this out.”

“Additionally, we also show that trained laypersons can play a critical role in returning genetic results. This provides a new paradigm for return of genetic results especially in racial and ethnic minorities,” said Dr. Horowitz.

Read Full Publication Here

About IGNITE:

The Implementing GeNomics In practice (IGNITE) Pragmatic Clinical Trials Network is an NIH-funded network dedicated to advancing the implementation of genomics in healthcare.

With oversight from the National Human Genome Research Institute (NHGRI), the Network is comprised of a coordinating center at Duke University School Medicine and five clinical groups: Indiana University Health, Mount Sinai Health System, Duke University School of Medicine and Duke Health, University of Florida Health, and Vanderbilt University Medical Center. Additionally, the Network engages affiliate institutions across the country to encourage sharing of innovative research and best practices in genomic medicine implementation.

The IGNITE Network is conducting two genomic medicine pragmatic trials:

  • ADOPT-PGx is an umbrella protocol for three pragmatic clinical trials investigating pharmacogenomics (PGx)-guided therapy for acute post-surgical pain, chronic pain, and depression. Pain and depression impact substantial proportions of the U.S. population, but finding safe, effective drug therapies remains challenging.
  • GUARDD-US is a pragmatic clinical trial that aims to determine the effect of returning apolipoprotein L1 (APOL1) genetic risk information to hypertensive African ancestry patients and their primary care providers, with a focus on the control of systolic blood pressure.

These trials aim to help researchers and clinicians understand what to expect with the return of genetic information to patients and providers in real-world clinical settings. Learn more about IGNITE.