Genome sequencing services are increasingly being utilized by physicians and their patients in both research and clinical settings. Developing standards and procedures for the use of sequencing information in clinical medicine is an urgent need with numerous obstacles to integrity and storage of sequencing data, interpretation, and responsible clinical integration. The MedSeq Project, funded by … Continued
Continuous new discoveries about the genome make updates important.
Robert Green, MD, MPH, the projects’ principal investigator suggests “These results are unexpected and exciting, suggesting that if we examine enough well-established, disease-associated genes, we will unearth monogenic risk variants in more than 10 percent of purportedly healthy individuals.”
More information on newborn and adult sequencing studies unveiled at the 2018 American Society for Human Genetics Meeting in San Diego, CA. Two projects in which healthy individuals have had their genomes sequenced have revealed that searching for unanticipated genetic results in newborns and adults can unearth far more variants associated with diseases than previously thought, … Continued
The true costs of genome sequencing don’t end with the technical production of A’s, T’s, C’s and G’s, and they don’t even end with the molecular interpretation of a few dozen or even a few hundred genes.
Dr. Robert C. Green speaks at the 2018 Advances in Genome Biology and Technology (AGBT) Precision Health Conference in San Diego, California about our efforts to gather empirical data on genome sequencing healthy individuals. Watch to learn more about G2P’s MilSeq, BabySeq, MedSeq, PeopleSeq, PGen and REVEAL projects. Click here for more on the conference.
The bloodTyper algorithm developed with MedSeq data can be used to prevent serious complications and transfusion-related deaths.
Whole genome sequencing (WGS) can help identify rare blood-type donors and transfusion recipients who may be at risk of adverse reactions from red blood cell antigen mismatches.
Medical investigators have used data from the MedSeq Project to develop an effective computer program that can identify critical differences in individuals’ blood types with more than 99 percent accuracy.
A study of two groups of 100 patients found no evidence that whole genome sequencing increases downstream healthcare costs. The story begins on Page 12.
The second piece of a 2-part blog series authored by Dr. Robert C. Green. An early study found no problems related to unnecessary or harmful medical follow-ups after healthy people received their genome sequencing results. To read the first piece, visit: https://medium.com/@genomes2people/genome-sequencing-for-healthy-people-will-it-be-helpful-b984b94e3d3f
Findings in whole-genome sequencing don’t lead to excessive follow-up testing, an early study found.
“Whole genome sequencing is coming of age, but there’s fear that with these advancements will come rocketing health care costs,” said lead author Kurt Christensen, MPH, PhD, an instructor of medicine in the Division of Genetics at BWH. “Our pilot study is the first to provide insights into the cost of integrating whole genome sequencing … Continued
A pilot study found no significant increases in healthcare costs among people who received whole-genome sequencing results along with a family history report.
The first piece of a 2-part blog series authored by Dr. Robert C. Green. Early results suggest that yes, whole genome sequencing may very well be substantially helpful to a significant number of healthy patients. To read the second piece, visit: https://medium.com/@genomes2people/genome-sequencing-for-healthy-people-will-it-be-harmful-d915cc08e634
Everyone talks about generating the clinical utility data necessary to integrate genomics into healthcare, but no one has taken this to heart more, or generated more of it, than Dr. Robert Green.
A remarkable 22% of patients had new monogenic disease risks, previously unknown to them or higher than expected. instead of showing signs of nervousness and upset, the patients took the next step into seeing a physician to discuss what they could do about it.
Integrating genome sequencing and other omics technologies into the day-to-day practice of medicine is an extraordinarily exciting prospect with the potential to anticipate and prevent diseases throughout an individual’s lifetime,” said senior author Robert C. Green, MD, MPH.
The MedSeq Project, conducted at Harvard Medical School and funded under the National Institutes of Health’s Clinical Sequencing Exploratory Research program, has been conducting a randomized controlled trial involving nine primary care physicians and 100 patients. Half of them were assigned to discuss their family history with their doctor, the other half to talk about … Continued
Much of genetic mutation classification is still to be determined by researchers, but what they do know can potentially help many patients with hypertrophic cardiomyopathy in this specific study.
How do you tell healthy people that they harbor lethal genetic variants? How does it affect their family or their overall health? Dr. Robert Green, director of the G2P research initiative, states that studying these variants is important because it gives some insight into how likely mutations are to affect increase risk of disease.
A study published in the journal Science Translational Medicine is the first to show that mutations in certain cancer and cardiovascular genes put individuals at an increased risk for dominantly inherited, actionable conditions, regardless of family medical history. The study, carried out in two separate populations of African-Americans and European-Americans, finds that individuals carrying these … Continued
Researchers are studying the ACMG 56 genes in order to understand the prevalence of these risky mutations and how likely they are to affect the general population. There is a wide spectrum regarding these mutations are still to be studied. This article explains the methodology and results that researches leading this study have found thus … Continued
A blog post authored by Dr. Robert Green discussing the benefits and challenges that people and health professionals are faced with when dealing with genetic testing and screening. Here, he addresses ethical issues and potential complications alongside beneficial factors that deal genome testing.
The big question is how to make genomic information useful to patients and medical practitioners; Genomes2People is looking for answers through the MedSeq and BabySeq projects, among others.
Dr. Robert Green digs deeper into his one of his own projects, MedSeq. He explains the motivation behind the project, his hopes for what will be achieved, and how this study will lead to helping other doctors understand how genomics will help their patients individually.
The cost of integrating genomic sequencing into clinical care seems to be a reasonable and attainable goal in the coming years. While there is still much to be taken into consideration, it could potentially be cost-effective.
Meeting with a genetic counselor is a crucial step before getting your genome sequenced because it allows patients to be more informed and prepared to hear and understand the results, especially with women who are being tested for the BRCA1 and BRCA2 gene.
When one family member of the Guisti family decided to get genetic testing, it set a domino effect for the entire family because of what was revealed within her genome.
The first crop of data from a study at Brigham & Women’s Hospital tracking how doctors understand and incorporate genomic sequencing results in their practice, shows that while they made some minor mistakes in communicating the data to patients, they learned and adapted to having this information as they would to any new tool.
A review article titled, “Diagnostic Clinical Genome and Exome Sequencing” published in the The New England Journal of Medicine (NEJM), summarizes the technologies underlying CGES and offers insights for how clinicians should order such testing, interpret the results, and communicate the results to their patients.
“This study will build on the expertise and accomplishments of this remarkable scientific team to create and test novel methods for interpreting whole genome sequencing information and actually using that information in clinical medicine,” said Robert C. Green, MD, MPH.