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Survey Says Parents Less Keen to Participate in Genome Sequencing-based Newborn Screening

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A study surveying Canadian adults about their perception and willingness to participate in newborn screening programs either based on current targeted panels, or potentially using whole-genome or exome sequencing, has found that significantly fewer people would be willing to participate in genome sequencing-based screening than current NBS programs.

More of the survey respondents also believe that parents have less of an obligation to participate in such genomic testing than they do in current newborn screening efforts.

According to the researchers from several Canadian institutions, the results suggest caution may be warranted as public health officers consider integrating whole-exome or whole-genome sequencing into NBS programs in the future.

Yvonne Bombard, first author on the study, which was published this month in the European Journal of Human Genetics, said the group wanted to gauge both public perception of current NBS programs, and test their hypotheses about how people might react to the idea of NBS based on untargeted genomewide sequencing.

"We were very pleased to find what we first expected, a confirmation that the large majority of the public is committed to participating in current NBS programs," she told this week.

"We also hypothesized that if we did our job of educating the public and explaining to them the principles and varied effects of [current programs] and how genome sequencing would augment and potentially change the balance of intended and unintended effects, that we would see reduced expected participation and a reduced obligation for parents to participate in NBS using untargeted sequencing technologies," she explained.

The results of the survey indeed bore this out, according to the team's report. While 94 percent of respondents said they'd be willing to participate in current NBS, only 80 percent were willing to participate in NBS using whole-genome or exome sequencing.

Also, while almost half of respondents saw participating in current NBS as a parental responsibility, only 30 percent viewed it as the responsibility of parents to participate in NBS based on untargeted genome sequencing.

The authors wrote that this signifies that efforts to integrate untargeted sequencing into NBS should tread carefully to avoid eroding public willingness and support for such programs.

While NBS in the US is largely compulsory on a state-by-state basis, in Canada newborn screening is not mandatory, and province or territory-based programs rely instead on implied parental consent, the study authors wrote.

Overall, the group surveyed more than 2,000 people, of which 1,213 completed enough of the questionaire to meet the quality criteria the team set.

According to the authors, the study cohort was reflective of the diversity of the overall Canadian population in terms of age, gender, and religion. However, the sample group was more educated and appeared to earn more income than the general population average, the researchers reported.

In the survey, which was administered online, respondents were asked about their general knowledge and perceptions of health and science, their awareness of NBS programs, their understanding of what NBS is, and their views on whether they would participate, and whether they see participation as a responsibility of all parents.

An important part of the project, Bombard said, was that questionnaires used also involved an educational component — designed to try to bring participants to an understanding of the principles of current NBS and how sequencing-based programs would differ — to encourage an appreciation of the effects of such programs not just on a personal level, but on a broader societal level.

"We hired a graphic designer to depict NBS as babies going through a gateway, like at the airport.

"In our images, green babies go through the gateway undetected … and [a] few yellow babies are picked up for further diagnostic testing. We described what we can do for these yellow babies who are actually found to have [a] condition, in terms of early diagnosis and treatment … If they don't have [a] condition, we described the unintended effects on those families, such as coping with false-positive results and the potential for over-diagnosis."

"Then we had true/false quizzes about all the intended and unintended effects of NBS, including early diagnosis and treatment, learning reproductive information, and coping with false-positive results and over-diagnosis. Ninety percent of respondents got the right answers."

According to Bombard, an interesting aspect of the study results was that the educational component of the team's questionnaire seemed to influence subjects' reduced expected participation in genome sequenced-based newborn screening.

"We found that, as the regression results showed, there was a very interesting swath of reasons as to why people would choose not to undergo genome sequencing-based NBS — driven by both a skepticism about science and an appreciation of the varied effects of NBS. The latter clearly came from the education component of the questionnaire," she said.

According to Bombard, the team's questionnaire did not delve into the subtleties of different approaches to sequencing-based NBS, like targeted versus whole-exome or whole-genome strategies, or differences between programs returning different sets of findings, or allowing participants to pick and choose which findings to receive.

"We took a simple broad approach in presenting genome sequencing as something that identifies information both [related to] what the original intent of newborn screening is, which is specific rare childhood diseases, and also potentially many more diseases or lifetime health risks," Bombard said.

"We didn't present it as that they would have a menu of results to choose from in the future, but I think that’s a very important gap both in clinical practice and if this [technology] moves into the public health screening realm."

Given the high level of support the team recorded among respondents in regard to current NBS methods, Bombard added, it's possible the public would be equally supportive of NBS using targeted sequencing methods, rather than broad whole-genome or exome sequencing, but this isn't something the researchers asked about.

"I think our survey is an important contribution, but it scratches the surface."

More questions have to be addressed, she added, not only in terms of what happens with participation and consent pre-sequencing, but also in terms of its after effects.

"It's not only cost – which was not [something we asked] participants about in this survey – but also a practical question [of follow-up care] and how healthcare providers are going to manage. We need to consider the scale: 4 million infants in the US are screened a year times however many incidental findings, depending on how you do your sequencing."

"You can only postulate how many more scared new parents are going to [go] to their doctors asking for follow-up tests," she explained.

Bombard said that she is also focused on research to develop decision aids for participants in whole-genome or exome sequencing, bringing the perspective of potential future customers or subjects of sequencing into the decision-making process toward developing informed consent methods for these services.

"We have frameworks proposed by [people like] Jonathan Berg at UNC and they have been helpful in starting to map out the terrain. But these sorts of frameworks provide the perspective of clinicians. We don't necessarily know what the potential recipients or users of these categories think about them, or if they make sense from their perspective," she explained.

Additionally, Bombard said she is beginning another similar survey project asking the public about what kind of results they are interested in receiving were they to have their genome sequenced, as well as what they would do based on the results.

In the US, the National Institutes of Health last year funded a handful of studies to assess whether sequencing provides useful medical information beyond what is already delivered by current newborn screening.

The grantees in this program join a host of other groups also funded by the NIH over the last few years to evaluate clinical sequencing for disease diagnosis and to guide personalized therapy in adults and children.

Overall, although many of the same questions need to be asked and answered about genome sequencing in the context of newborn screening and in other areas like clinical care for adults and children with cancer and other diseases, Bombard said that the two realms are really different animals.

"Personal decisions in medical care, where we can ascertain patients’ preferences and consent, versus what we might impose in a public health programs in the context of implied consent or universal screening — those invoke very different policy discussions and imperatives," she said.

In the newborn screening sphere, Bombard said she and her colleagues hope their contribution with this study will be part of the input into an evidence-based process used to make decisions about whether and how to incorporate targeted or untargeted sequencing technologies.

"The research community has taken a measured approach, by first funding these NIH studies to evaluate this technology and its use in the newborn context, and I would imagine that those kinds of research and the kinds of research we have contributed would the building blocks used to inform public policy decision-making," she said.

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