G2P December Newsletter 2023

G2P News |
December 2023
G2P News

G2P’s final newsletter of 2023 celebrates the five year anniversary of The Franca Sozzani Fund for Preventive Genomics. Other highlights include the second annual meeting of the International Consortium on Newborn Sequencing (ICoNS) in London and the 2023 Advisory Board members of the year, Mike and Ann Marie Einziger. We also join Genomes2Veterans in celebrating … Continued

G2P September Newsletter 2023

September 2023
G2P News

This newsletter highlights the International Conference on Newborn Sequencing (ICoNS) that is just around the corner on October 5-6, 2023 in London, UK. It’s not too late to register! Other G2P updates include media coverage of BabySeq1 publications, a new publication from the Sanford Imagenetics team about pharmacogenomics in primary care, and a blog post … Continued

G2P July Newsletter 2023

July 2023
G2P News

In this newsletter we’re excited to announce that the Precision Population Health initiative (PPH) is working with the South Central Foundation (SCF) on a new clinical genomic screening program to improve the health of the Alaska Native population. We are also thrilled to share that registration for the Second Annual International Conference on Newborn Sequencing … Continued

Precision screening for health equity

Medium |
June 2023
G2P Blog

“Addressing stark, deeply-rooted racial disparities in healthcare has to be a priority for medical research. PRS might be one tool to improve disease screening and move us beyond race-based medical decision-making and toward more equitable health outcomes.”

Genetics experts support adding hundreds of treatable rare diseases to newborn screening

National Center for Advancing Translational Sciences |
May 2023
Press

“In a newly released study, nearly nine of 10 experts on rare diseases agreed that sequencing healthy newborns’ DNA to reveal treatable genetic disorders should be available for all infants. At least half of experts also endorsed testing for more than 400 genes as part of such newborn genomic screens. These NCATS-supported study results might … Continued

Should all U.S. newborns undergo genomic testing?

U.S. News & World Report |
May 2023
Press

“While newborns are only screened for about 60 treatable conditions, there are hundreds of genetic disorders that have targeted treatments. Now, a national survey of experts in rare diseases found the vast majority support DNA sequencing in healthy newborns…’It has been a longstanding dream to someday offer DNA sequencing to all newborns in order to … Continued

Rare disease experts support newborn genome sequencing

Inside Precision Medicine |
May 2023
Press

“Research led by Mass General Hospital for Children suggests that almost 90% of rare disease experts are in favor of newborn genome sequencing for monogenic treatable disorders…’Early identification of infants who are at risk for genetic disorders can be lifesaving and screening has the potential to improve healthcare disparities for affected children,’ said lead author … Continued

Rare-disease doctors support expanded newborn genomic screening, survey finds

STAT |
May 2023
Press

“When 238 rare-disease doctors across the U.S. were surveyed by a research team at Mass General Brigham in Boston, 88% of them agreed that DNA sequencing to screen for certain treatable childhood disorders should be made available to all newborns. The study was published Monday in JAMA Network Open.”

Mass General Brigham-led study finds experts support DNA sequencing in newborns

Mass General Brigham |
May 2023
Press Release

“Findings from a new study led by researchers at Mass General Brigham suggest that rare disease experts are now in favor of more expansive newborn testing. In a study published today in JAMA Network Open, 88 percent of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available … Continued

Five questions with Nic Encina: Working upstream or downstream

Ariadne Labs |
April 2023
G2P News

“In our Five-Question series, we highlight the staff and faculty behind the compelling work at Ariadne Labs. Upstream or downstream? That has long been a career question for Nic Encina, MS, MS, MBA, now Director of Strategy of the Precision Population Health initiative at Ariadne Labs.”

Revealing the hidden impact of whole-genome sequencing for newborns

New Scientist |
August 2022
Press

“Would you have your baby’s genes sequenced at birth? A groundbreaking trial that used whole-genome sequencing to predict newborns’ future health, is starting to reveal the impact it has had on the whole family, seven years down the line.”

Medical research in genomics – Theory meets practice

Mass General Brigham |
May 2022
Video

Through the Achieving Research Equity & Inclusion Conference, Mass General Brigham engages stakeholders from across the country and our communities for a unique opportunity to change how we do research. Click the link below to hear Dr. Robert C. Green talk about medical research in genomics, where theory meets practice.

Will genetics and genomics deliver precision health?

U.S. News |
May 2022
Video

Hear from a panel of experts, including Dr. Robert C. Green, about the challenges and opportunities ahead for genomics and precision health, as well as how researchers, clinicians and other stakeholders are working to make sure that such efforts are inclusive, equitable, accessible and effective.

Full-genome screening for newborn babies is now on the cards

The Economist |
May 2022
Press

“Doctors in many places want to sequence and screen babies’ entire genomes at birth. In America there are projects to do just that at Boston Children’s Hospital, Columbia University and Rady Children’s Hospital in San Diego. A pioneering group at Harvard, known as BabySeq, has recently received money to expand its small-scale work to include … Continued

Baby’s first genome

Nature Biotechnology |
April 2022
Press

“Whole-genome sequencing may be the fastest way to diagnose rare complex diseases, but should it be incorporated into healthy newborn screening?” “We are missing the opportunity to address an increasing number of treatable conditions,” says G2P Dr. Robert Green.  

Association of Pathogenic Variants in Hereditary Cancer Genes with Multiple Diseases

Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL,  Denny JC
JAMA Oncology April 2022  

Genomics in Health Implementation Forum newborn sequencing virtual workshop

Genomics in Health Implementation Forum |
April 2022
Video

On April 5th, 2022, initiatives from around the globe will virtually convene for a meeting of the Genomics in Health Implementation Forum (GHIF). This focused workshop aims to share the status of international efforts establishing genomic newborn screening programs and identify areas for engagement with GA4GH Work Streams.

Population DNA screening for medically actionable disease risks in adults

Lacaze PA, Tiller J, Winship I, Brotchie A, McNeil J, Zalcberg J, Thomas D, Milne R, James P, Delatycki M, Young M, Nowak K, Nguyen-Dumont T, Southey M, Ademi Z, Bruinsma F, Riaz M, Terrill B, Kirk J, Tucker K, Andrews L, Pachter N, Susman R, Poplawski N, Wallis M, Watts G, Nicholls S, Macrae F, Sturm A, Green RC, Ahern S, Von Saldern S, Powell S, Rice T
Medical Journal of Australia March 2022  

Their DNA hides a warning, but they don’t want to know what it says

The New York Times |
January 2022
Press

The MGB Biobank returned actionable genetics results to 256 participants, 76.3 percent of whom were unaware that they carried a variant that put them at increased risk. The New York Times reports on this return of results process, outlining that some participants wanted to learn this information and others did not.

What is precision medicine?

ABC Nightlife |
January 2022
Podcast

“Precision medicine is personalised and creating individualised treatments for a whole range of conditions, so how is it changing the way we manage disease? Philip Clark spoke to John Mattick a Professor of RNA Biology at UNSW and Professor Robert Green is the Director of the Genomes2People Research Program at Harvard Medical School.”

The UK’s plan to sequence the genomes of 200,000 newborn babies

Geographical |
November 2021
Press

“Genomics England are poised to a launch a pilot project which will see the genomes of newborn babies sequenced on their very first day of life…In the USA, under a pilot project called BabySeq, a team co-led by Robert Green from Brigham and Women’s Hospital found that across 1,500 genes in 127 healthy and 32 … Continued