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Parents, Physicians View Genome Sequencing as Useful for Managing Care of Seriously Ill Infants

NEW YORK – Both parents and doctors of seriously sick infants view genome sequencing as helpful for managing their care, a pair of new studies has found.

As part of the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, researchers from Rady Children's Institute for Genomic Medicine offered genome-wide sequencing to families of sick infants to help diagnose their disease. As they reported previously, they found this to be a viable approach for first-line diagnostic testing.

The NSIGHT2 researchers also asked the babies' parents and doctors how they viewed the use of genome sequencing in this setting. In a pair of studies appearing on Thursday in the American Journal of Human Genetics, the team reported that parents and clinicians found both positive and negative findings from sequencing tests to be useful. Further, parents expressed little regret about their decision to have their infants undergo testing, and few said they experienced harm from doing so.

"[B]oth groups overwhelmingly felt that genetic testing was beneficial," Stephen Kingsmore, president and CEO of Rady Children's, said in a statement. "When results are positive, sequencing reveals the genetic variation responsible for the child's disease. But what astounded us was the high proportion of both doctors and parents who perceived that this testing had life-changing utility, even in cases when results were negative for genetic disease."

More than 200 infants enrolled in the NSIGHT2 study. About two dozen underwent ultra-rapid whole-genome sequencing, as they were very ill, while the rest were randomized to undergo either rapid whole-genome or whole-exome sequencing. At the same time, the researchers offered surveys to the parents of the infants as they were enrolled and after they received results, as well as to the infants' physicians. In all, more than 160 parents and 207 clinicians completed the surveys.

Overall, 97 percent of parents said that genomic testing was at least somewhat useful. This response, the researchers noted, was striking as only 23 percent of the corresponding infants received a diagnosis of a genetic disease, though parents whose baby did receive a diagnosis were more likely to find sequencing useful than those whose child did not. Still, the finding suggested parents found testing to be beneficial no matter the outcome.

At the same time, clinicians also largely found genetic sequencing to be useful. Similar to the parents, they viewed it as more useful when testing led to a molecular diagnosis, as compared to when it did not. Overall, sequencing results led to a change in patient management for 28 percent of infants, with those changes typically entailing screening for comorbidities, consulting with a sub-specialist, or changing medication.

Most parents expressed little to no regret about their decision to have their babies undergo genome sequencing testing, and about half expressed no regret at all. Regret, however, was highest among Spanish-speaking parents, which the researchers said could reflect the study's reliance on translators, noting that although the survey was translated into Spanish, the translation was not validated and could have affected the researchers' ability to assess regret.

Clinicians, though, detected some stress or confusion among a small number of parents, about 3 percent, following their receipt of results. But surveys available from four of the six corresponding families reported no increase in stress or confusion.

Doctors further noted that genomic sequencing led to improved communication with families regarding their babies' outcomes, expectations, and prognosis.

"These studies clearly show that genomic sequencing can be done safely in the NICU, leading to improved communication between families and their healthcare teams," co-author David Dimmock from Rady Children's said in a statement. "These results underscore the importance of rapid test results in changing care."