An Introductory Tutorial on Cardiovascular Pharmacogenetics for Healthcare Providers

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Akinyemi Oni-Orisan, Sony Tuteja, Glenda Hoffecker, D Max Smith, Matteo Castrichini, Kristine R Crews, William A Murphy, Nam H K Nguyen, Yimei Huang, Christelle Lteif, Kevin A Friede, Kelan Tantisira, Folefac Aminkeng, Deepak Voora, Larisa H Cavallari, Michelle Whirl-Carrillo, Julio D Duarte, Jasmine A Luzum; Pharmacogenomics Global Research Network (PGRN) Publications Committee

NIH funds new Genomics and Public Service Fellowship Program

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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.

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study

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Jesse J Swen, Cathelijne H van der Wouden, Lisanne En Manson, Heshu Abdullah-Koolmees, Kathrin Blagec, Tanja Blagus, Stefan Böhringer, Anne Cambon-Thomsen, Erika Cecchin, Ka-Chun Cheung, Vera Hm Deneer, Mathilde Dupui, Magnus Ingelman-Sundberg, Siv Jonsson, Candace Joefield-Roka, Katja S Just, Mats O Karlsson, Lidija Konta, Rudolf Koopmann, Marjolein Kriek, Thorsten Lehr, Christina Mitropoulou, Emmanuelle Rial-Sebbag, Victoria Rollinson, Rossana Roncato, Matthias Samwald, Elke Schaeffeler, Maria Skokou, Matthias Schwab, Daniela Steinberger, Julia C Stingl, Roman Tremmel, Richard M Turner, Mandy H van Rhenen, Cristina L Dávila Fajardo, Vita Dolžan, George P Patrinos, Munir Pirmohamed, Gere Sunder-Plassmann, Giuseppe Toffoli, Henk-Jan Guchelaar; Ubiquitous Pharmacogenomics Consortium

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

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Dena R Matalon, Cinthya J Zepeda-Mendoza, Mahmoud Aarabi, Kaitlyn Brown, Stephanie M Fullerton, Shagun Kaur, Fabiola Quintero-Rivera, Matteo Vatta; ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee

Integrated multi-omics for rapid rare disease diagnosis on a national scale

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Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer Arts, Matilda R Jackson, Hamish S Scott, Stefanie Eggers, Simone Rowley, Kirsten Boggs, Ana Rakonjac, Gemma R Brett, Michelle G de Silva, Amanda Springer, Michelle Ward, Kirsty Stallard, Cas Simons, Thomas Conway, Andreas Halman, Nicole J Van Bergen, Tim Sikora, Liana N Semcesen, David A Stroud, Alison G Compton, David R Thorburn, Katrina M Bell, Simon Sadedin, Kathryn N North, John Christodoulou, Zornitza Stark

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants

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Chad A Bousman, James M Stevenson, Laura B Ramsey, Katrin Sangkuhl, J Kevin Hicks, Jeffrey R Strawn, Ajeet B Singh, Gualberto Ruaño, Daniel J Mueller, Evangelia Eirini Tsermpini, Jacob T Brown, Gillian C Bell, J Steven Leeder, Andrea Gaedigk, Stuart A Scott, Teri E Klein, Kelly E Caudle, Jeffrey R Bishop

Scientists release a new human “pangenome” reference

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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.