JAN 06, 2019 1:31 PM PST

Exploring the Impact of Extensive Newborn Screening

WRITTEN BY: Carmen Leitch

Clinics started screening newborn babies for one genetic disease, phenylketonuria, in the 60s. While the exact number now varies by state, an array of diseases - most of which are inherited disorders, have been added to newborn screening panels. Often, early interventions can make huge differences for impacted newborns and their families. The BabySeq Project was begun several years ago in an effort to understand more about the ethical, medical and economic effects of adding genetic testing to newborn screens. Initial findings from the project have been published in the American Journal of Human Genetics.

Image modified from MaxPixel

"Traditional newborn screening uses biochemical analysis on a small drop of blood to look for a small number of conditions that can benefit from early intervention," said the senior author of the study Alan Beggs, director of the Manton Center for Orphan Disease Research at Boston Children's Hospital. "In contrast, genomic sequencing has the ability to simultaneously analyze thousands of genes that are known to cause disease.

"But the specificity and sensitivity of genetic tests are uncertain and relatively low, and not all of the diseases that we may find are treatable," he noted. "This leads to a potentially complex package of information about a baby. It's important to look at how people view this information and what the outcomes of having it are."

Beggs led the study with Robert C. Green, of Brigham and Women's Hospital and collaborated with investigators to sequence 159 newborns, of which 127 were healthy, and 32 of which were patients in neonatal intensive care units. The team found that fifteen babies, about ten percent, were at risk for diseases that can be managed at young ages, including hearing loss and cardiomyopathy. The scientists were surprised by their findings because family history questionnaires did show any reason to think the children were at risk.

"In this study, we focused on reporting gene variants that had substantive evidence to confer risk for disease," said the first author of the work Ozge Ceyhan-Birsoy, a clinical molecular geneticist who is now at Memorial Sloan Kettering Cancer Center.

The team also revealed genetic variants that can increase the infants’ risk for disease later in life. Two infants carried BRCA2 variants that predispose them for breast cancer, and one had Lynch Syndrome.

"This part of the testing was very different from the component that looked at childhood diseases," Beggs explained. "In this case, it alerted the parents that they should also get tested because they were the ones who had more imminent risk. One of the aspects that's important to highlight with this kind of research is that genetic testing has implications for the whole family." This is different from other medical tests, he noted; they only give you information about person that got the test.

The BabySeq project wants to explore these issues further, and at this time, do not propose adding more extensive tests to standard newborn screening. "There are many considerations with offering these tests to individuals," said co-author Casie Genetti, a genetic counselor at Boston Children's Hospital. "We plan to follow these babies, as well as their parents and their doctors, to look at how this information gets used and how it impacts health and well-being long-term. It will help us to get a pulse on whether this kind of testing is feasible on a larger scale."

Genetic sequencing is most useful when it reveals a condition that a person can be treated for. When it shows that a person is at risk, but nothing can be done, it may only create unnecessary worry, for example. The researchers are going to follow the participants of this study so that if new genetic data becomes available that reveals something new about their genetic risk, they can notify the participants.

The BabySeq Project is outlined in the video.


Sources: AAAS/Eurekalert! Via Cell Press, American Journal of Human Genetics

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
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