Medical Genomics in Underrepresented Populations from Latin America to the Pacific

Posted on by Alexis

On June 13, Dr. Andrés Moreno Estrada delivered a lecture for the Genomics and Health Disparities Lecture Series, co-sponsored by institutes in the National Institutes of Health (NIH) and the Food and Drug Administration (FDA).

The Genomics and Health Disparities Lecture Series was formed to enhance opportunities for dialogue about how innovations in genomics research and technology can impact health disparities. Topics range from basic science to translational research.

View Dr. Moreno’s session and other recordings on the NHGRI’s website.

NHGRI Releases New and Improved Talking Glossary of Genomic and Genetic Terms

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Illustration of chromosome and DNAOn National DNA Day (April 25) this year, the National Human Genome Research Institute (NHGRI) released a fully revamped version of its popular talking glossary, which included a new name: the Talking Glossary of Genomic and Genetic Terms. First launched in 1998, the talking glossary is one of the most visited sites on genome.gov. Some of the talking glossary’s terms receive over 70,000 views per month. This resource is filled with definitions, audio recordings, and illustrations for hundreds of terms. It is one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.

Read the full article on the NHGRI website.

 

Researchers Generate the First Complete, Gapless Sequence of a Human Genome

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Researchers Generate the First Complete, Gapless Sequence of a Human Genome

Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.

According to researchers, having a complete, gap-free sequence of the roughly 3 billion bases (or “letters”) in our DNA is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain diseases. The work was done by the Telomere to Telomere (T2T) consortium, which included leadership from researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; University of California, Santa Cruz; and University of Washington, Seattle. NHGRI was the primary funder for the study.

Read the full news release on the NHGRI website.

Publication Available on the Design and Rationale of GUARDD-US

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Design and rationale of GUARDD-US: A pragmatic, randomized trial of genetic testing for APOL1 and pharmacogenomic predictors of antihypertensive efficacy in patients with hypertension

 

Abstract

Rationale and objective: APOL1 risk alleles are associated with increased cardiovascular and chronic kidney disease (CKD) risk. It is unknown whether knowledge of APOL1 risk status motivates patients and providers to attain recommended blood pressure (BP) targets to reduce cardiovascular disease.

Study design: Multicenter, pragmatic, randomized controlled clinical trial.

Setting and participants: 6650 individuals with African ancestry and hypertension from 13 health systems.

Intervention: APOL1 genotyping with clinical decision support (CDS) results are returned to participants and providers immediately (intervention) or at 6 months (control). A subset of participants are re-randomized to pharmacogenomic testing for relevant antihypertensive medications (pharmacogenomic sub-study). CDS alerts encourage appropriate CKD screening and antihypertensive agent use.

Outcomes: Blood pressure and surveys are assessed at baseline, 3 and 6 months. The primary outcome is change in systolic BP from enrollment to 3 months in individuals with two APOL1 risk alleles. Secondary outcomes include new diagnoses of CKD, systolic blood pressure at 6 months, diastolic BP, and survey results. The pharmacogenomic sub-study will evaluate the relationship of pharmacogenomic genotype and change in systolic BP between baseline and 3 months.

Results: To date, the trial has enrolled 3423 participants.

Conclusions: The effect of patient and provider knowledge of APOL1 genotype on systolic blood pressure has not been well-studied. GUARDD-US addresses whether blood pressure improves when patients and providers have this information. GUARDD-US provides a CDS framework for primary care and specialty clinics to incorporate APOL1 genetic risk and pharmacogenomic prescribing in the electronic health record.

Read the full publication.

Submit Ideas for Opportunity to Speak at Virtual NHGRI Symposium

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The National Human Genome Research Institute (NHGRI) invites you to submit your ideas for an opportunity to be one of six speakers at its upcoming virtual symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present and Future” October 6-7, 2022

The virtual symposium will address historical and present-day constructions of disability and ableism, with a focus on the history and lived experiences of people with disabilities in the context of genetics and genomics.

Through an open call for presentations, the event aims to develop a fuller account of the lives and experiences of people with disabilities. Conversations will link disability rights to wider NIH discussions and around inclusivity, intersectionality, equity, and social justice.

Deadline for submissions is June 30, 2022. Email submissions to nhgrihistory@mail.nih.gov.

View the call for papers.

Call for Applications: Joint Postdoctoral Fellowship in Clinical Ethics and the ELSI of Precision Medicine

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The University of North Carolina (UNC) Center for Genomics and Society (CGS) and the Center for Bioethics (C:B), together with the Program for Precision Medicine in Health Care (PPMH), announce a joint postdoctoral position in clinical ethics and the ethical, legal, and social implications (ELSI) of precision medicine. Through this partnership, we are expanding the original CGS postdoctoral training program to include an emphasis on practical clinical ethics and attention to precision medicine. We are pleased to invite applications from individuals who are committed to interdisciplinary collaboration and research, and who have specific interests in these areas.

This two-year fellowship will begin in September 2022. The fellowship allows time for research, training, and publications. Fellows will have the opportunity to collaborate with CGS, C:B, and PPMH faculty in the School of Medicine on selected projects in bioethics. They will also have the opportunity to participate in the Clinical Ethics Service at UNC Hospitals. With the assistance of a mentor, fellows will design an individual program tailored to their particular goals, interests, and background. Fellows may use the resources of CGS, C:B, and/or PPMH to develop projects on various topics relevant to clinical ethics and ELSI, as well as projects that highlight current PPMH interests, such as: use of genetics for screening healthy populations of adults and children; use of genomic information and family history in electronic health records; engagement of diverse populations in genomics and precision medicine; or design of precision medicine research.

Fellows will have access to a wide range of activities and opportunities within the CGS, C:B, and the PPMH, including:

  • Regular seminars, presentations, and discussions with leaders in the field
  • Bioethics mentorship
  • Professional development training
  • Teaching opportunities (commensurate with experience and background)
  • Clinical ethics consultation training in UNC Hospitals
  • Independent and collaborative research
  • Publication opportunities (as a co-author, lead author, or solo author)
  • Grant-writing opportunities
  • Conference presentations

Qualifications:

  • Candidates should have a strong interest in clinical ethics, precision medicine, and/or ELSI research, and have recently completed a doctoral degree (PhD, JD, MD) before beginning the program.
  • We welcome individuals from a variety of disciplines in the social and behavioral sciences, genetics or other basic sciences, epidemiology, nursing, medicine, law, philosophy, or public health.

Salary/Benefits:

  • Salary is commensurate with experience and similar to rates offered by the NIH
  • Health insurance
  • A modest discretionary fund for travel

How to apply:

Review of applications will begin immediately with a deadline of May 31, 2022.  Candidates may apply via PeopleAdmin: https://unc.peopleadmin.com/postings/221929.

Complete applications require the following materials:

  • Cover letter
  • Personal statement in support of your application (2 pages, maximum)
  • CV
  • Three letters of reference
  • Writing sample (published or unpublished for which you were the lead or solo author)

For more information on this fellowship position, please contact Kriste Kuczynski, Program Manager of the Center for Genomics and Society.

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.