Visiting researcher, José Manuel González de Aledo Castillo, speaks on what newborn sequencing programs can learn from conventional newborn screening in his recent blog entitled “The Second Revolution of Newborn Screening.” He advocates for a future in which newborn sequencing and traditional newborn screening can work together in a complementary manner to ultimately reduce costs … Continued
Pakhi Dixit, who manages social media for Genomes2People, writes a tribute to Franca Sozzani in the latest G2P blog. She highlights Franca’s powerful legacy and story behind the Franca Sozzani Fund for Preventive Genomics which was created to, “leverage evidence and advocacy around preventive genomics so that everyone, regardless of ethnicity or socioeconomic background, may … Continued
In this blog post, Dr. Robert Green poses the question: “What’s holding us back from doing more with preventive genomics in medicine?” Drawing on his recent keynote talk at the Precision Medicine Network (PMNET) Forum in Riga, Latvia, Dr. Green explores near-term applications of precision medicine using genetic testing such as: newborn and childhood sequencing, … Continued
Earlier this month, leading researchers and experts in genomics and newborn sequencing representing the U.S., the U.K., Europe, Australia, and the Middle East came together in London at the Royal Institution for the second annual International Conference on Newborn Sequencing co-hosted with Genomics England to present updates regarding their own research and share future plans.
“Addressing stark, deeply-rooted racial disparities in healthcare has to be a priority for medical research. PRS might be one tool to improve disease screening and move us beyond race-based medical decision-making and toward more equitable health outcomes.”
We know this screening saves lives. Why aren’t health systems adopting it? Senior Genetic Counselor Carrie Blout Zawatsky explores this question in a new blog.
In this Chicago Tribune post, G2P Director Robert Green writes that Hemsworth and Jolie are accelerating awareness and acceptance of a future where we do not wait to respond to the ravages of so many diseases but rather anticipate, predict and prevent them through genomics.
The lack of diversity in genomic research may be a call to fundamentally change the research enterprise.
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
The overturning of Roe v. Wade and resulting legal barriers are already restricting screening and reproductive options.
Reaping the full benefits of personalized medicine requires a cadre of genetic counselors as diverse as our patients. We’re working on it.
“Genomic researchers who are returning results to participants need to look at how to incorporate sequencing now, not later.”
For the first time in history, we can treat the underlying cause of some genetic diseases — if we catch them early enough. What does this mean for public health?
In an unprecedented international effort, researchers and clinicians tackle the genomics of COVID-19 risk. In this blog post, G2P Director Robert Green writes about what we’ve learned so far concerning genetics and COVID-19 and how the G2P research program has contributed to these growing studies.
Nic Encina, Director of Strategy of the Precision Population Health (PPH) Initiative at Ariadne Labs, describes the recent launch of PPH into the world of precision medicine. “We feel that Genomes2People’s real-world research in genomic return-of-results combined with Ariadne Labs’ practical approach to health system innovation and implementation are aptly suited for tackling implementation obstacles … Continued
In this blog post, G2P trainee Sachi Badola speaks to the importance of genetic literacy and proposes a genetics elective to be offered to all high school students that comprehensively covers the implications, limitations, and challenges of genomic medicine and precision health.
Former G2P trainee Cathelijne van der Wouden, PharmD, shares about her journey into genomic medicine as a pharmacist-in-training in this G2P blog post.
Race is a social construct, but representation matters in genetic studies — and on that front, we have a long way to go. By Tala Berro, MS, CGC
Elizabeth Fieg, MS, LCGC discusses the importance and implication of the H.R. 3235-The Access to Genetic Counselor Service Act that would authorize and recognize appropriately credentialed genetic counselors as reimbursable providers under Medicare.
“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.”
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.
