Using genomics in medicine

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Vockley J, Brunetti-Pierri N, Chung WK, Clarke AJ, Gold N, Green RC, Kagan S, Moroz T, Schaaf CP, Schulz M, De Baere E
Genetics in Medicine In Press

G2P Newsletter November 2022

November 2022
G2P News

In this newsletter, we are excited to announce the date and location of the 2023 International Conference on Newborn Sequencing (ICoNS) happening the week of October 2nd-6th in London. Additionally, we highlight the professional accomplishments of our Senior Genetic Counselor/Project Manager Carrie Blout Zawatsky, as well as our team at the Annual National Society of … Continued

Awareness and utilization of genetic testing among Hispanic/Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos

Christensen KD, Zhang M, Galbraith LN, Granot-Hershkovitz E, Nelson SC, Gonzalez S, Argos M, Perreira KM, Daviglus ML, Isasi CR, Cai J, Talavera GA, Zawatsky, CLB, Green RC, Isasi R, Kaplan R, Sofer T 
Human Genetics and Genomics Advances In Press

Head start: The promise of universal newborn sequencing

Illumina Genomics Forum |
September 2022
Video

The Illumina Genomics Forum is Illumina’s premier global event advancing the positive impact of genomic health. G2P Director Dr. Robert Green spoke alongside Ryan Taft on building the evidence base for offering comprehensive sequencing for every child at birth.

The path to universal newborn sequencing

International Conference on Newborn Sequencing (ICoNS) |
October 2022
Video

At the inaugural International Conference on Newborn Sequencing, researchers from eight studies across the world outlined their plans, goals, and results to date for their newborn sequencing initiatives. The BabySeq Project led by Robert Green at Brigham and Women’s Hospital, the Broad Institute and Harvard Medical School was the first randomized clinical trial designed to … Continued

From researcher to patient: Knowledge is power

Medium |
October 2022
G2P Blog

Last year, our former research assistant, Charlene Preys, underwent genetic counseling and testing for hereditary cancer associated with the ATM gene. Upon receiving her ATM status, Charlene’s risk of developing breast cancer jumped from 12 to 40%, and her risk of developing pancreatic cancer increased from <1% to 10%. Patient organizations and support groups were … Continued

Blood from a baby at birth can be gene sequenced to prevent diseases

USA TODAY |
October 2022
Press

“This week, Dr. Robert Green is hosting a conference in Boston, bringing together researchers and industry representatives from the U.S., U.K., European Union and Australia to set standards and discuss the challenges and opportunities presented by scaling up newborn genetic sequencing.”

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T
American Journal of Human Genetics August 2022  

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.

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