A new study, published today in JAMA Pediatrics, has investigated the impact of newborn genomic sequencing (nGS) on parents. Their results have indicated that there are no persistent negative psychosocial effects on families caused by nGS. The findings will be key to deciding whether or not nGS should be integrated into routine care.
Newborn genomic sequencing
Genomic sequencing is becoming increasingly accessible as technologies advance and costs decrease. Currently, sequencing is used in clinical settings to diagnose diseases and inform treatment options. But, in the future, it is hoped that genomic sequencing will be more widely applied.
It has been suggested that newborn genomic sequencing (nGS) should be used to address disease risks early in life. To achieve this, nGS could be used alongside existing newborn screening (NBS) programs. For example, in the UK, Genomics England is currently considering carrying out a pilot study of nGS.
Nonetheless, there are concerns that nGS could also have a negative psychosocial effect on families. While there is already evidence showcasing that NBS can cause psychological distress in parents, until now, there have been no studies exploring the impact of nGS. Such studies will be key to determining the harm-to-benefit balance of nGS.
“Prior studies suggest that adults don’t usually experience negative psychological impact when given genomic information about themselves; but how this impacts parents and the family unit when the information is about their newborns hadn’t been previously explored,” co-first author Dr. Stacey Pereira said.
Surveying parents of nGS infants
In this study, the team investigated the psychosocial effect of nGS on families of newborns enrolled in the BabySeq Project. The project ran a randomised clinical trial of nGS in newborns from both well-baby nurseries and intensive care units (ICUs).
In total, 325 newborns were enrolled in the BabySeq Project. Half of the newborns were the control group. This group received state standard NBS and undertook a family history report. The other half of newborns were in the nGS group, who additionally received whole exome sequencing.
Infants that were found to have variants in a single gene that is known to significantly increase the risk of developing a condition were said to have received a monogenic disease risk (MDR) result. Detailed results of the sequencing have already been published.
In this study, 519 individual parents of the newborns enrolled in the BabySeq project were surveyed. The parents were surveyed immediately after they were informed of either the NBS or nGS result, and then again at 3- and 10-months post-result. The impact on parents between the nGS and control groups was then compared.
Minimal differences between groups
The study investigated three family domains: parent-child relationship, parents’ relationship with each other and parents’ psychological distress.
The team found that parent-child bonding did not differ between the study groups. Interestingly, immediately after result disclosure, parents in the nGS group who received an MDR finding actually reported feeling less negative toward the new baby compared to the control group. However, there was no statistical difference at the later time points.
The results initially showed different response patterns between groups in terms of parents’ relationship satisfaction. Parents in the nGS group reported lower satisfaction than control group parents immediately after results disclosure. This difference decreased with time. Intriguingly, control group parents reported higher partner-blame than parents in the nGS group, but only at 10 months post-results.
In addition, levels of postpartum anxiety did not differ between the study groups over time. However, the response pattern differed between nGS parents who received an MDR result and those who did not. The MDR group anxiety levels decreased significantly more at three months than those without an MDR result. In terms of self-blame, scores were interestingly higher in parents of infants in the control group than those in the nGS group. As with partner-blame, this was only seen at 10 months after result disclosure.
Conclusions and future work
Overall, this study found that nGS results, including those with MDR findings, were not associated with significant negative psychosocial effects. Where there were statistical differences between the control and nGS groups, all of these differences decreased over time. In fact, in some impact measurements, parents in the nGS group were actually less affected than those in the control group. The team suggested that future research should explore the potential positive impacts of nGS, as nGS may provide some peace of mind.
However, the study has several limitations. As it was done on a voluntary basis, parents may have already had positive attitudes towards such research. This means the findings may not be applicable to a scenario in which nGS is state-mandated. Additionally, the number of families who received an MDR was small, and higher numbers will be needed to validate these results. Finally, the research only took place over 10 months, so conclusions cannot be drawn about longer-term impacts.
Despite these limitations, the results collected in this study suggest that any negative effects of nGS on families are minor and decrease with time. This is incredibly encouraging and paves the way for the integration of nGS into healthcare settings in the future.
