Using genomics in medicine

Selection of genetic conditions for multi-state genomic newborn screening in BRIDGES-NBS

Gold NB, Johnson BA, Somanchi H, Minten T, Coury SA, Blout Zawatsky CL, Begtrup A, Butler E, Langley KG, Zimmerman R, McLaughlin HM, Ellefson T, Kern A, Rehm HL, Bick D, Brenner SE, Kasperaviciute D, Abraham RS, Aksentijevich I, Babinski M, Billington Jr. CJ, Butte MJ, Canna SW, Caron M, Chan YM, Chandrakasan S, Chiang SCC, Delmonte OMM, Diller LR, Downie L, Fleischer J, Fulton A, Ganetzky RD, Gold J, Goldbach-Mansky R, Grunebaum E, Hale RC, Hamosh A, Hildebrandt F, Holtz AM, Jacobsen C, Kan MJ, Kitcharoensakkul M, Kodyte V, Kreienkamp RJ, Lennerz BS, Lin AE, Madduri AV, Majzoub JA, Marsh RA, Miller DT, Milner JD, Mitchell DM, Murray B, Notarangelo LD, Peng XP, Place EM, Platt CD, Plon SE, Plotkin SR, Powell CM, Puck JM, Roberts AE, Sankaran VG, Schwartz DM, Seroogy CM, Srinath S, Strong A, Sullivan KE, Tan W, Tarrant TK, Thiagarajah JR, Walker MA, Wassner AJ, Bolanos HZ, The BEACONS-NBS team, Gaviglio AM, Bonhomme N, Ojodu J, Singh S, Zarbalian G, Pereira S, Goldenberg AJ, Holm IA, Wasserstein MP, Green RC

Genetics in Medicine October 2026

Returning unsolicited genetic research results: Insights from a health care provider survey in eMERGE III

Ziniel S, Madden J, Wiesner G, Brothers K, Clayton E, leppig K, Myers M, Ralston J, Scrol A, Williams J, Aufox S, Christensen K, Chung W, Connolly J, Green RC, Halverson C, Harr M, Henrikson N, Nestor J, Pacyna J, Rasouly HM, Sharp R, Smith M, Wynn J, Holm IA

Genetics in Medicine In Press

BabySeq to BRIDGES: Empirical Data on Newborn Genomic Sequencing

International Consortium on Newborn Sequencing |

October 2026

Video

Building on G2P’s evidence base from the BabySeq and BRIDGES projects, Dr. Robert C. Green opened the 5th Annual International Consortium on Newborn Sequencing (ICoNS) meeting with a keynote charting the roadmap for translating preventative genomic screening into safe, population-level clinical and public health realities all across the world.

Oregon to begin enrollment in nationwide newborn genomic screening research study

Oregon Health Authority |

October 2026

Press Release

Oregon is the first of now eight states and territories preparing to enroll newborns in BRIDGES-NBS, with in-person recruitment at PeaceHealth-Eugene and OHSU and statewide self-enrollment open to families. The state’s newborn screening program sees genome sequencing as a way to expand screening from 46 conditions to more than 700!

Making Genomic Newborn Screening a Clinical Reality

GA4GH |

September 2026

Video

Dr. Robert C. Green delivers the Plenary at the 14th Global Alliance for Genomics and Health (GA4GH) conference, hosted in Singapore from Sept 28 to Oct 2, 2026. “Making genomic newborn screening a clinical reality” draws on his pioneering initiatives, including the BabySeq Project, BRIDGES-NBS, and the International Consortium on Newborn Sequencing (ICoNS), breaking down … Continued

When to return genomic newborn screening results: health care professional perspectives

Lewis ACF, Buchanan AH, Goldenberg AJ, Knoppers BM, McGuire AL, Green RC, Holm IA

medRxiv In Submission

Long-term penetrance of disease variants in genes prioritized for genomic newborn screening: Evidence from adult biobanks

Gold NB, Zouk H, Yeo J, Lipsitz S, Koyama S, Somanchi H, Perez E, Selvaraj MS, O’Grady L, Miller E, Lewis ACF, Karlson EW, Strong A, Gold JI, Rehm HL, Natarajan P, Green RC

In Submission

Sequencing for a lifetime: Value, feasibility, and the governance gap in lifelong genomic medicine

Lewis ACF, Holm IA, Buchanan AH, Goldenberg AJ, Knoppers BM, McGuire AL, Green RC

AJHG In Press

Recommendations for return of secondary genomic findings in observational cohort studies

Kullo IJ, Horowitz CR, Bastarache L, Berkman B, Biesecker L, Brothers K, Carson AP, Diaz K, Gibbs RA, Green RC, Hampel H, Henley C, Linder JE, Jarvik GP, Khan SS, Make B, Ripatti S, Robinson M, Savatt JM, Shaibi GQ, Sodeke SO, Wise C, Hong Y, Yan Y, Yarden RI

Nature Genetics September 2026

Would you test your newborn for a disease that might strike years later?

CNN |

September 2026

Press

Would you want to know if your newborn carried a risk of serious illness years before symptoms began? This CNN feature puts that question at the center of the newborn-genomics debate—showing both its potential to prevent illness and the difficult choices it may create for families.

Screening babies’ genomes could save lives. Here’s how it would work

Nature |

August 2026

Press

This Nature feature explores the growing momentum behind genomic newborn screening, highlighting early evidence that sequencing can identify serious, treatable conditions that traditional newborn screening may miss. It examines major initiatives around the world—including BabySeq, GUARDIAN, BabyScreen+, the UK Generation Study, and BRIDGES-NBS—while considering key questions around scalability, cost, gene selection, interpretation, and the responsible … Continued

Patient and primary care clinician perspectives on polygenic risk scores for prostate cancer screening: a national qualitative study

Clayman ML, Cheam L, Gillespie C, Antwi AA, Anderson E, Danowski ME, Brunette CA, Song V, Grant CE, Scheuner MT, Wiener RS, Vassy JL

Genetics in Medicine August 2026

Ariadne Labs Announces Jason Vassy as Director of Precision Population Health Program

Ariadne Labs |

August 2026

Press, Press Release

Ariadne Labs is thrilled to announce the appointment of Dr. Jason Vassy as the new director of the Precision Population Health Program!

Development and pilot testing of a prostate cancer polygenic risk report

Griffin JN, Danowski ME, Gerety HL, Lafferty K, Clayman ML, Antwi AA , Bertero MG, Brunette CA, Gillespie C, Guentert L, Lennon NJ, Martin J, Patel LS, Vassy JL

BMC Medical Genetics July 2026

In Brief This Week: BRIDGES-NBS

Precision Medicine |

July 2026

Press

What’s in a name? For one of G2P’s newborn genomic screening studies, quite a bit — as Precision Medicine reports, the collaborative effort has rebranded as BRIDGES-NBS, a change designed to sharpen its identity and steer clear of confusion with unrelated products in the field.

NHGRI-Funded Population Genomic Screening Network to Study ‘Full Cycle of Implementation’

Genome Web |

July 2026

Press

The National Human Genome Research Institute (NHGRI) has launched the Population Genomic Screening Network (PGSN), a new five-year consortium bringing together leading institutions—including investigators from G2P and led by Dr. Jason Vassy, Director of G2V —to study the implementation of population genomic screening in primary care. The network will enroll more than 30,000 participants across … Continued

Elective genomic sequencing for adults in research, clinical and commercial contexts

Linderman MD, Adelson SM, Berro TM, Anderson JL, Crawford SD, Cunningham TJ, Esplin ED, Ewing-Crawford AT, Nielsen DE, Pereira S, Schmidlen T, Andrighetti H, Bleyl SB, Church GM, Haverfield EV, Hegde M, Konstantinos LN, Kruszka P, Leonard D, May T, McGinniss M, Pandya V, Schadt EE, Tzovaras BG, Zettler B, McGuire AL, Green RC and the PeopleSeq Study Team

BMC Medical Genetics July 2026

Should Every Baby’s DNA Be Sequenced?

The Economist |

June 2026

Press

What if every newborn received a genome sequence alongside the traditional heel prick test? The Economist explores the rapid expansion of genomic newborn screening through England’s Generation Study, BabySeq in the United States, and similar efforts across Australia and Europe, highlighting both the potential to transform early diagnosis and the ethical challenges that accompany its … Continued

With Genetic Testing, How Much Information Is Too Much?

The New York Times |

June 2026

Press

Drawing on emerging research in newborn genomic screening, including studies led by Dr. Robert Green, this Opinion piece examines both the promise and complexity of using genome sequencing in newborn care. Daniela Lamas examines questions about uncertainty, parental decision-making, and the future of genomic newborn screening as large-scale studies begin enrolling tens of thousands of … Continued

Genetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders

Ekstein T, Aguilar S, Russell EM, Ellsworth RE, Christensen KD, Hulick P, Green RC, Nussbaum R, Aradhya S, Garcia J

Genetics in Medicine May 2026

G2P Spring Newsletter 2026

May 2026

G2P News

Spring is a season of new beginnings, and at Genomes2People, that spirit is reflected in the exciting work happening across our team! In this newsletter, we highlight new research advancing equitable newborn genomic sequencing, celebrate one year since Dr. Robert Green’s TED Talk on the life-saving potential of newborn DNA, and spotlight Dr. Anna Lewis’s … Continued

Contributions of the Alzheimer’s Disease Neuroimaging Initiative to advancing AD research: A targeted review of recent publications

Veitch DP, Miller MJ, Kanorial S, Aisen PS, Beckett LA, Green RC, Harvey DJ, Jack Jr. CR, Jagust W, Lee EB, Lees EB, Nho K, Nosheny R, Okonkwol OC, Perrin RJ, Petersen RC, Mindt MR, Saykin AJ, Shaw LM, Toga AW, Tosun D, Landau SM, Weiner MW, for the Alzheimer's Disease Neuroimaging Initiative

Alzheimer's and Dementia May 2026

Navigating data sharing in research

Lewis ACF, Clayton EW, Bangash H, Bland HT, Bonini KE, Cimino JJ, Connolly JJ, Freimuth RR, Fullerton SM, Hakonarson H, Holm IA, Jarvik GP, Khan A, Kiryluk K, Linder JE,Luo Y, Lynch JA, Mittendorf KF, Pacheco JA, Rasmussen LV, Rose SL, Rowley R, Sharp RR, Walunas TL, Wei WQ, Weng C, Sabatello M

American Journal of Human Genetics April 2026

Rare Disease Day at NIH 2026: Paving the Way to a Brighter Future for All Americans

NIH National Center for Advancing Translational Sciences |

March 2026

Press

In celebration of 2026 Rare Disease Day, nearly 2,300 researchers, clinicians, patients, and advocates filled the halls of the NIH Natcher Conference Center or joined virtually to highlight the urgency and opportunity of advancing rare disease research. With more than 10,000 identified rare diseases affecting millions of Americans, speakers emphasized the need for innovative trial … Continued

Newborn Genomic Screening Takes Center Stage at ACMG as Stakeholders Discuss Progress, Concerns

GenomeWeb |

March 2026

Press

As newborn genomic screening initiatives continue to unfold around the world, the ethical and responsible implementation of the approach into public health sparked vibrant discussions at the American College of Medical Genetics and Genomics (ACMG) annual meeting last week. In addition to updates from notable newborn genomic screening studies — such as the UK’s Generation … Continued

Designing inclusive newborn sequencing research: Insights from parents in underrepresented communities

Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S

BMC Medical Genetics March 2026

Navigating ethical, legal and social implications in genomic newborn screening

Lewis ACF, Brown G, The GA4GH Working Group on genomic newborn screening, Bombard Y

Nature Reviews Genetics February 2026

BEACONS Newborn Genome Screening Study Selects Seven Sites, Finalizes Gene List

GenomeWeb |

January 2026

Press Release

GenomeWeb celebrates the BEACONS team’s announcement regarding the selection of 7 U.S. states and territories selected to assess the feasibility of integrating whole genome sequencing into public health newborn screening. The team also published the curated gene list, which consists of 746 genes associated with 777 genetic conditions, all clinically actionable within the first year … Continued

BEACONS Selects Seven Sites, Finalizes Gene List for Genomic Newborn Screening Study

Ariadne Labs Press |

January 2026

Press Release

Ariadne Labs covers the announcement of two major milestones from the newly NIH-funded study, BEACONS. Six states and one U.S. territory have been selected to assess feasibility of integrating whole genome sequencing into public health newborn screening. The BEACONS team has also published the curated gene list, consisting of 777 genetic conditions, all actionable within … Continued

Genomic risk model to implement precision prostate cancer screening in clinical care: theProGRESS study

Vassy JL, Dornisch AM, Karunamuni R, Gatzen M, Kachulis CJ, Lennon NJ, Brunette CA, Danowski ME, Hauger RL, Garraway IP, Kibel AS, Lee KM, Lynch JA, Maxwell KN, Ratner D, Rose BS, Teerlink CC, Xu GJ, Hofherr SE, Lafferty KA, Larkin K, Malolepsza E, Patterson CJ, Toledo DM, Donovan JL, Hamdy FC, Martin RM, Neal DE, Turner EL, Andreassen OA, Dale AM, Mills IG, Abraham A, Batra J, Clements J, Cussenot O, Cybulski C, Eeles RA, Fowke JH, Grindedal EM, Grönberg H, Hamilton RJ, Lim J, Lu YJ, MacInnis RJ, Maier C, Mucci LA, Multigner L, Neuhausen SL, Nielsen SF, Parent MÉ, Park JY, Petrovics G, Plym A, Razack A, Rosenstein BS, Schleutker J, Sørensen KD, Townsend PA, Travis RC, Vega A, West CML, Wiklund F, Zheng W, Seibert TM, Profile SteeringCommittee, IMPACT Study Steering Committee and Collaborators, PRACTICAL Consortium, VA Million VeteranProgram, Seiber TM

Nature Cancer January 2026

Nationwide genetic screening proves effective at catching disease risk early

Nature News & Views |

January 2026

Press

This Nature article highlights how nationwide genetic screening shows promise for early disease risk detection. Evidence from a large Australian pilot demonstrates population-wide genetic screening in young adults can successfully identify individuals at increased risk for serious heritable conditions, including hereditary cancers and high cholesterol, before symptoms arise. The findings outline the potential of early … Continued

Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot

Lacaze P, Tiller J, Brotchie A, Nguyen-Dumont T, Steen J, Belluccio D, Young M, Willis A, Mitchell LA, Nowak KJ, Burns B, Horton AE, Nicholls SJ, Ademi Z, Green RC, Manchanda R, Thompson BA, Thomas D, Milne RL, Bruinsma Delatycki MB, Pang J, Watts GF, Macrae F, Oiolawski N, Kirk J, Tucker K, Andrews L, Wallis M, Rusman R, Pachter N, Sullivan D, Ragunathan A, James P, Zalcberg J, McNeil JJ, Southey MC, Winship I

Nature Health January 2026

Opportunistic genomic screening for familial hypercholesterolemia to improve low-density lipoprotein cholesterol – A randomized clinical trial

Vassy JL, Brunette CA, Yi T, Assimes TL, Christensen KD, Knowles JW, Sturm AC, Sun YV, Alexander N, Cardellino MP, Harrison A, Gerety HL, Pyatt M, Vered R, Wilson PWF, Natarajan P, Whitbourne SB, Gaziano JM, Muralidhar S, Danowski ME

JAMA January 2026

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

Gold JI, Elkaim Y, Gold NB, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Briere LC, Sweetser DA, Kripke C, Verma A, Salmasian H, Landry L, Nathanson KL, Kallish S, Drivas TG

AJHG December 2025

Genomic newborn screening: A scoping review of the field’s evolution and associated ethical, legal, and social implications

Brown GL, Walker L, Afolabi MA, Bain PA, Bonilha A, Chaudhari BP, Christodoulou J, Dai Z, Friedman JM, Gaviglio A, Green RC, Jagu S, Knoppers BM, Newson AJ, Stark Z, Vears DF, Wilson A, Bombard, Lewis ACF

European Journal of Human Genetics May 2026

Study: Major Gaps Block Genetics Evaluation and Testing for Black and Low Income Patients

Newswise of Perelman School of Medicine at the University of Pennsylvania |

December 2025

Press Release

This press release describes crucial findings from a joint study by the Perelman School of Medicine at the University of Pennsylvania and Massachusetts General Hospital. The research team highlights systemic obstacles in primary care, lack of referral guidelines, and workforce shortages, and they call for interventions like decision-support flags in electronic health records, embedded genetic … Continued

Explore 2025’s Most Impactful Genetics Research

Elsevier |

December 2025

Press

Join us in celebrating Nina Gold and her team’s incredible work investigating the sensitivity of genomic newborn screening for treating inherited metabolic conditions. Editor-in-Chief Robert D. Steiner of Genetics in Medicine recognized this work as one of the most impactful pieces of genetics research published in 2025!

Dr. Robert Green Speaks at TED on Bringing Preventive Genomics into Everyday Care

Ariadne Labs News |

September 2025

Press Release

Ariadne Labs celebrates Dr. Robert Green’s TED Talk, which explores how preventive genomics could transform medicine by identifying disease risk before symptoms ever appear, even from birth. Drawing on the world’s first DNA screening of healthy newborns, he makes the case for a future of care focused on prediction and prevention, not just treatment.

The Double-Edged Code: The promise and peril of personal genomics

Inside Precision Medicine |

December 2025

Press

This article explores the critical transition toward genomic implementation into precision health, examining the economic, clinical, and ethical frameworks required to integrate genomic data into everyday care. Featuring insights from G2P Director Dr. Robert Green and other leading experts, it challenges us to consider how we will responsibly navigate the most intimate information we possess.

Can Genomic Sequencing at Birth Transform Medicine? Reflections from My TED Talk

Medium |

December 2025

G2P Blog

In this blog post, Dr. Green reflects on his mainstage TED Talk, making the case that integrating whole-genome sequencing at birth could reveal thousands of treatable genetic risks early in life. Drawing on findings from BabySeq Project and the newly funded BEACONS Initiative, he shows how a single test at birth could give families actionable … Continued

Using genomics in medicine

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