“The cost of sequencing itself is already comparable to a lot of other diagnostic tests regularly used in medicine,” Kurt Christensen, PhD said. Besides: “What really moves the needle on cost effectiveness isn’t the costs — it’s the benefits.”
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The ultimate aim of our Genomes2People Research Program is to contribute to the transformation of medicine from reactive to proactive, from treatment-oriented to preventive. We are trying to help build the evidence base that will justify societal decision to make these technologies and services accessible to anyone who wants them, regardless of means, education or … Continued
Continuous new discoveries about the genome make updates important.
When a newborn’s genome is sequenced, should some results be withheld?
Tala Berro, MS, LCGC writes about her experiences as a minority genetic counselor during her training and clinical rotations. Berro shares, “To my fellow genetic counselors, I propose the following version of the golden rule: treat your peers as you treat your patients”.
Parents and clinicians have their own ideas about newborn genome sequencing. Dr. Robert Green, principal investigator of the BabySeq Project, shares a detailed analysis of the results from the study and his thoughts on the utility of genomic sequencing for newborns in clinical care.
While a good deal of research has focused on finding information within the human genome that can diagnose rare conditions, far less work has been done to understand the longer-term consequences of identifying genetic risks in apparently healthy people. Read more the PeopleSeq Consoritum from the principal investigator, Dr. Robert Green!
Scott D. Crawford, Shawn Fayer, and Robert C. Green directly address and highlight some of the recent FDA movement in the direct-to-consumer (DTC) genetic testing space with a five-post blog compilation.
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.
Casie Genetti, MS, CGC, a licensed genetic counselor with the Manton Center for Orphan Disease Research at Boston Children’s Hospital is first author of a recently published paper on the BabySeq Project and author of this blog about parents’ receptiveness to genome sequencing.
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
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
Dr. Robert Green discusses genetic privacy concerns and questions about whole genome sequencing that have arisen from parents whose children are participating in the BabySeq project.
We found that almost exactly 1% of the populations in both FHS and JHS carried a pathogenic variant in one of the original ACMG56 genes. And we found that those carrying pathogenic variants had an increased aggregated risk of developing clinical features associated with the corresponding diseases.
This is part of our overall scientific mission to determine how personal genomic sequencing may impact participants’ long-term health, behavioral and economic outcomes.
Many patients succumb to the idea of “false reassurance.” Dr. Robert Green addresses these assumptions in relation to smoking behavior.
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.
“When researchers discover something about a participant that could significantly affect that person’s relatives, do the researchers have a duty to tell the relatives? Are the researchers bound to protect the participant’s privacy even if the participant is deceased?”
Genomes2Peoples study on personal genetic testing proved to be very beneficial for adoptees that were curious about their family genetic history.
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.
A blog post written by Robert Green addresses why people are motivated for continued with personalized genetic testing. “Our study suggested that the motivations for this interest go beyond simply predicting risk… and that for these participants, their fascination with genetics was an attempt to understand the condition that they had,” he says.
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.
How well do people who receive genomic information from direct-to-consumer testing, such as 23andMe, understand their results? The Impact of Personal Genetic Study (PGen) asked consumers to report on their experience.
Dr. Robert Green responds to criticism of the American College of Medical Genetics (ACMG) recommendations on incidental findings in clinical sequencing, and explains the need for these recommendations.