ADOPT PGx Team Reaches End-Of-Enrollment Milestone

Posted on by Mia

ADOPT PGx recently celebrated reaching its participant enrollment milestone in September 2023 following the enrollment of 4,111 total participants. The last participant should complete the follow-up period for the trial by April 2024.

The primary goal of the study is to reduce depression symptoms and improve pain control in participants who are expected to process anti-depressant or pain medications faster or slower than normal as indicated by pharmacogenetic testing. Secondary goals include safety endpoints, changes in overall well-being, and differences in healthcare utilization.

The study is an umbrella protocol comprised of three separate arms: Acute Pain, including 1,602 participants, Chronic Pain, which enrolled 1,461 participants, and Depression, including 1,408 participants.

ADOPT PGx was conducted across five clinical groups representing nine different healthcare institutions in the United States.

Participants were randomized in a 1:1 ratio to immediate versus delayed pharmacogenetic testing and return of results to participants and providers.

Study results and primary manuscripts are expected to be completed in late 2024.

For more information about each of the trials, visit their trial page: Acute Pain, Chronic Pain, and Depression.

CCPM’s Biobank unearths disease risk and pinpoints problems with medications

Posted on by Mia

The biobank at the Colorado Center for Personalized Medicine (CCPM), a partnership between UC Health and the University of Colorado Anschutz Medical Campus, uses genetic data to identify specific genetic variants that could increase the risk of health problems, such as cancer or heart disease, as well as issues with how patients process a variety of medications.

A patient’s biobank results give them the opportunity to work with their providers to learn about their risks, make lifestyle changes to aid in prevention, and stay up to date about medical options for the best health outcomes. Pam Dyer, one of more than 227,000 patients who have consented to provide a blood sample in the biobank, learned about the gene TTR, which can cause hereditary transthyretin (ATTR) amyloidosis.

Read the full article on the UC Health website.

NIH funds new Genomics and Public Service Fellowship Program

Posted on by Alexis

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.

“Careers in genomics extend well beyond the laboratory now. There is an entire rainbow of opportunities to advance genomics in research, medicine and society,” said NHGRI Director Eric Green, M.D., Ph.D. “Future advances in genomics will need the next generation of minds working in the education, communications, policy and scientific program areas. This new ASHG-NHGRI fellowship program will provide novel training opportunities to foster such experts.”

Read the full press release on the NHGRI website.

Scientists release a new human “pangenome” reference

Posted on by Alexis

Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.

The new “pangenome” reference includes genome sequences of 47 people, with the researchers pursuing the goal of increasing that number to 350 by mid-2024. With each person carrying a paired set of chromosomes, the current reference actually includes 94 distinct genome sequences, with a goal of reaching 700 distinct genome sequences by the completion of the project.

Read the full press release on the NHGRI website.

NASEM Report Says Researchers Need to Rethink and Justify How and Why Race, Ethnicity, and Ancestry Labels Are Used in Genetics and Genomics Research

Posted on by Alexis

Researchers and scientists who utilize genetic and genomic data should rethink and justify how and why they use race, ethnicity, and ancestry labels in their work, says a new National Academies of Sciences, Engineering, and Medicine (NASEM) report.

The report says researchers should not use race as a proxy for describing human genetic variation. Race is a social concept, but it is often used in genomics and genetics research as a surrogate for describing human genetic differences, which is misleading, inaccurate, and harmful. To improve genomics research, the report presents a new framework and decision tree to help researchers choose descriptors and labels that are most appropriate for their study.

From the beginning of genetics and genomics research, researchers have used “population descriptors” as a shorthand for capturing the complex patterns of human genetic variation across the globe. For example, these descriptors can identify groups based on nationality, such as French; geography, such as North American; or ethnicity, such as Hispanic. But human genetic differences are distributed in complex ways that do not necessarily align with a single descriptor.

Read the full news release and report on the NASEM website.

 

PGx ECHO Program

Posted on by Alexis

The University of Minnesota College of Pharmacy invites all actively practicing clinicians to join their Pharmacogenomics (PGx) ECHO project. PGx ECHO aims to improve health professionals’ confidence in using PGx in patient care by providing case-based education and consultation through telementoring. Every month, clinicians from across the nation seek PGx advice regarding real clinical cases. PGx ECHO is modeled on the all-teach-all-learn principle and encourages interactive and engaging discussion between attendees and facilitators.

The University of Minnesota works with colleagues at Children’s MN, Ferris State University, M Health Fairview, Manchester University, North Dakota State University, South Dakota State University, and Sanford Health to coordinate and facilitate the monthly sessions. PGx ECHO meets the third Friday of every month over the lunch hour. For past ECHO cases and topics, and a schedule of upcoming cases, please visit the PGx ECHO website.

If you are interested in joining, please use this link to register.

PGx ECHO is for practicing clinicians with direct patient care responsibilities. Student learners are welcome to join.

If you would like to present a case or have any questions, please contact pgxecho@umn.edu.

NIH Genetics/Genomics Competency Center is refreshed and renamed to GenomeEd

Posted on by Alexis

The National Human Genome Research Institute’s Genetics/Genomics Competency Center (G2C2) has been a valued resource for healthcare provider educators and learners alike for over 10 years. The resource, now called GenomeEd, has recently undergone a refresh to make it easier for educators and current practitioners to find high-quality resources for group instruction or self-directed learning.

Learn more on the National Human Genome Research Institute website.