Genomes2People: A Roadmap for Genomic Medicine
Over the past few years, the role of genomics in the clinic has expanded enormously. At the forefront of this translational tsunami is the Genomes2People (G2P) Research Program. Founded by Robert Green, involving researchers from Brigham and Women’s Hospital and Harvard Medical School, the playfully-named G2P is laying the groundwork for the future of genomic medicine.
“It’s only been five years since the establishment of G2P, but the impact we’ve had on the genomics field through high-level publications and significant health outcomes data has been extremely exciting,” says Robert Green.
“We are examining the integration of sequencing into the clinical care of adults and children, the impact of direct-to-consumer genetic testing, outcomes of genomic sequencing in healthy adults to gain insights into the potential future of personalised and preventative medicine, and much more.”
Earlier in his career as a neurologist with a focus on Alzheimer’s disease, Robert launched the REVEAL study – Risk Evaluation and Education for Alzheimer’s Disease – a series of clinical trials exploring patient reactions to the knowledge of their genetic risk for Alzheimer’s. Robert became so excited by the prospect of genomics that he took a leave from his position as a full professor of neurology and retrained in in the Harvard Medical School Genetics Training Program, becoming board certified in medical genetics. He joined the Division of Genetics in the Department of Medicine at Brigham and Women’s Hospital and Harvard Medical School in 2011,
“G2P started as a team of three individuals including Dr. Green and myself,” explains Erin Drake, G2P’s Director of Research Operations, “and has expanded to a team of nearly 20 innovative, engaged, and driven individuals including faculty postdoctoral research fellows, genetic counsellors, project managers, research assistants, and student trainees.”
G2P has a long reach, with a range of collaborators across healthcare, academia and industry. “G2P has built valuable relationships in translational genomics within our local community,” says Erin, “specifically with the Broad Institute of MIT and Harvard, Partners Healthcare Personalized Medicine, the Partners HealthCare Laboratory of Molecular Medicine, and the Brigham Research Institute, to name a few.” “The relationships and collaborations we have formed, often with G2P serving as the central hub, have enabled us to accomplish so much more than we could on our own and really make for a rich and energising professional experience, environment and pace for G2P.”
G2P’s speciality is randomised clinical trials, many of them the first of their kind, designed to lay the groundwork for what the future of precision medicine could look like, from top level studies like MedSeq, focussed on developing the framework for clinical use of genomic information, to examinations of direct-to-consumer genetic testing outcomes in the PGen Study…
To read the full article turn to page 34.
The Babyseq Project
Almost all infants born in the U.S. undergo routine newborn screening for approximately 30 different disorders using a simple heel stick blood test. The CDC (Centers for Disease Control and Prevention, in the USA) ranks this development in their Ten Great Public Health Achievements of the early 2000s, noting that newborn screening for certain endocrine disorders has led to earlier life-saving treatments and intervention for at least 3,400 additional babies every year.
Read more about the project and the potential impacts of newborn genomic sequencing from Genetic Counsellor and Project Manager of the the Babyseq project. Turn to page 35.
The Medseq Project
Defining a process for integrating genome sequencing into standard clinical practice: this is the aim of the MedSeq Project. While that may sound straightforward on paper, it is one of the most critical challenges facing translational genomics.
Read more on Medseq and how 200 patients have already got involved. Turn to page 36.
The PGEN Study
Like PeopleSeq, the PGen Study is also focussed on genetic testing in ostensibly healthy individuals. But where PeopleSeq is exploring sequencing, PGen is solely focussed on personal genetic testing (PGT).
The PeopleSeq Consortium
Much of the work around genomic sequencing has focussed on patients, people with diagnosed and undiagnosed conditions. But a growing number of physicians and clinicians are wondering what might be the potential benefits are of genomic information to healthy people. Is there a benefit to sequencing individuals without symptoms?
Read on to hear what the Consortium are working on with healthy individuals, turn to page 38.
The REVEAL-SCAN Study
Before G2P there was REVEAL – Risk Evaluation and Education for Alzheimer’s Disease – funded by the NHGRI since 1999 to study how patients responded to finding out they were genetically pre-disposed to Alzheimer’s disease.
To learn what the study asked of patients and what the answers might change for Alzheimer’s, turn to page 39.