Currently, the risks and benefits of genomic sequencing for newborns are not well understood. All newborns receive a state-mandated heel stick blood test shortly after birth in order to screen for approximately 30 heritable, treatable conditions such as blood, endocrine, and metabolic disorders. Genomic sequencing has the potential to allow for significantly more extensive screening of … Continued
“Sequencing at birth could provide a template—a book of life, if you will —to predict conditions or decide what medications to use for an entire lifetime,” says Robert Green, a medical geneticist at Brigham and Women’s and professor at Harvard Medical School who is co-leading the study.
Only about 7 percent of families approached to take part in the BabySeq Project of Brigham Women’s Hospital and Boston Children’s Hospital eventually enrolled, with many citing a lack of interest in research, study logistics, and privacy concerns as reasons for declining to participate.
Press Brief: The BabySeq Project reports that although more than 80 percent of approached mothers and fathers declined an offer for free genomic sequencing of their newborn, more than half of those parents were not interested in any research participation.
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.
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.
“According to Green, the Hastings report tries to take a broad view and is well done and well resourced. But he questioned whether recommendations of this type may be premature, considering that the research arms of NSIGHT are still early in the process of collecting, analyzing, and reporting their data.”
The third and final interview conducted with Dr. Robert Green about specific circumstances that could arise from genetic sequencing starting from infancy.
Follow new parents Katherine and Jason as they meet with Genomes2People Genetic Counselors to learn about their baby boy’s genome sequencing results as part of our BabySeq Project.
Dr. Robert C. Green talks about The BabySeq Project, the world’s first study of genetically sequencing newborns, and how genetic information can influence one’s medical care beginning from birth.
Genomic testing for Baby Cora, a participant of The BabySeq Project, revealed a disorder that might otherwise have gone undetected until life-long health issues presented themselves.
Highlights include a CBS feature on the BabySeq Project, the announcement of the MilSeq collaboration with the U.S. Air Force, and more.
The idea of finding a risk in their beautiful baby of something that might or might not happen is terrifying or repugnant,” he says. “But other types of people are information seekers.”
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.
“Les parents, grands curieux, seraient même fous des données génomiques!”
The project has two aims: One is to evaluate the risks and benefits of genome sequencing in healthy and sick infants, with the goal of developing evidence to support guidelines for use of this technology in newborn screening or care. The second objective is to study parents’ thoughts and feelings about genetic testing, as well … Continued
Gaining information by getting your DNA sequenced on what diseases you have risks for and can take preventative measures based on this information
“We are moving to a world where the technology will get so good and the cost will get so low that it will be very appealing to apply sequencing to not only sick people but well people,” says geneticist Robert C. Green.
“Simply putting together all the pieces to design these complicated research projects is an ambitious undertaking. But it is essential that we find ways to rigorously measure the clinical utility of new technologies so that we can apply them responsibly, and that is the focus of the BabySeq Project, and of the other NSIGHT projects.”
In-vitro fertilization, above, that uses DNA from two mothers to prevent some serious diseases has been approved in Britain, and Dr. Robert Green, a geneticist at Brigham and Women’s Hospital, says the U.S. will be pressed to follow suit.
Forbes highlights the work of the BabySeq project by speaking with Laura Stetson, a mother who enrolled her daughter in the research program. By sequencing their daughter’s genome, doctors were able to quickly combat the daughters biodeficiency disease that was not caught during the standard heel stick screening.
Conducting whole-exome sequencing on newborn babies during the BabySeq project highlighted important findings on how it would affect parents. While some were willing to know the information that was coded in their baby’s genes, many were resistant to this idea because of public policy and possible insurance mishaps.
A family that had participated in the BabySeq project shares their experiences about getting their baby’s full genome test results back that showed a mutation in the elastin proteins (elastin helps heart muscles bend and stretch). The father of the baby states “.. I think the biggest regret would have been had something happened down … Continued
A general overview of BabySeq and its findings, including a detailed analysis of the risks and benefits of newborn sequencing for the future.
Highlighting the story of a family who participated in the BabySeq study that detected their newborn infants partial biotinidase deficiency. Shawn Fayer, the project manager of BabySeq and a licensed genetic counselor stated, ” Symptoms would likely have appeared if the child had become sick from something else, which makes it very difficult to diagnose. … Continued
Dr. Robert Green sits down to discuss the results of a participating family in the BabySeq project where a BRCA2 mutation was found in a baby boy and how the situation was approached to tell the family since this directly affected either one or both of the parents.
Green’s team plans to study whether knowing about such mutations is beneficial for the family in the long run, or results in unnecessary anxiety and tests.
The idea of newborn sequencing may have been initially inviting to parents who were expecting healthy children, but after learning of all the adverse effects that lead after, many decided to not follow through as research participants.
“An ongoing clinical trial at Brigham and Women’s Hospital and Boston Children’s Hospital, called BabySeq, is trying to untangle some basic questions about the benefits and harms of gene sequencing. Does it improve health? Does it lead to lots of excessive medical testing? Does it cause harm?”
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.
A family who participated in the BabySeq project at Brigham and Women’s is for genetic testing, as they wanted to be prepared, even if the test came back to show that their child would develop a life altering disease.
With advances in prenatal screenings in the Bay Area, studies have shown that more women are deciding to end Down syndrome pregnancies.
The principal investigators on the BabySeq project were trying to determine what information would be the most pertinent and helpful for both patients and physicians to know from whole-exome sequencing in the initial stages of the project. Their findings within the first couple of patients were quite interesting and they are excited to continue with … Continued
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.
“For the first time ever doctors at Brigham & Women’s and Boston Children’s Hospital are sequencing the genome of newborns. This allows doctors to decode the DNA and look for the possibility of future diseases and conditions”
The BabySeq project in Boston at Brigham and Women’s Hospital, led by Dr. Robert Green, has begun collecting data to quantify the risks and benefits of DNA sequencing at birth.
Medical privacy and concert concerns are being addresses with newborn sequencing advances. It is predicted that there will be many changes to policy in the coming years.
A study published this week in Genetics in Medicine is the first to explore new parents’ attitudes toward newborn genomic testing. The findings suggest that if newborn genomic testing becomes available, there would be robust interest among new parents, regardless of their demographic background.
“This first-of-its-kind study will accelerate the use of genomics in clinical pediatric medicine by creating and safely testing novel methods for integrating sequencing into the care of newborns. We will implement and study a futuristic goal: that genomic information examined shortly after birth can serve as a resource throughout infancy and childhood to inform clinical … Continued