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Genomics for 6% of Newborns?
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40_weeks_pregnantWould You Want To Know The Secrets Hidden In Your Baby’s Genes? Turns out most people don’t. The article profiles the BabySeq Project, and the offer of whole exome sequencing (exomes are the parts of the genome which code for proteins).

In some ways, the results were discouraging:

One thing Green hadn’t anticipated is how hard it has been to convince new parents to do this screening in the first place. Early research showed the majority of parents were interested in the medical information. But 94 percent of parents Green and his team are approaching are saying no.

So that leaves 6 percent. That’s not a trivial number. There are about 4 million babies born per year, so that would be 240,000 newborns with their exome sequenced. And part of the balking is just fear. People will get over this. Technologies like this have an S-shaped adoption curve. It starts out low at first, and then expands to most of the population. Some portion will always opt-out, and that’s their right.

Probably the bigger issue is that people need to not overreact. A lot of loss-of-function mutations turn out to be innocuous in many people.

 
• Category: Science • Tags: Genomics 
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  1. “Probably the bigger issue is that people need to not overreact. A lot of loss-of-function mutations turn out to be innocuous in many people.”
    a
    THIS needs to be emphasized again and again. As we do more whole genome and exome sequencing, we are finding more and more people who have known “pathogenic” mutations, but no obvious pathology. We still have a lot to learn about all the ways in which a mutation can be compensated for by other mechanisms (some of which are surely completely unknown to us at this time; i.e. not only do we not know why mutation x is not causing disease in this person, we may not even know the general mechanism that is being used to prevent or suppress pathogenicity).

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  2. Thanks for highlighting this, Razib. I agree that 6% is still a substantial number, showing that a significant portion of parents were really interested in pursuing this testing prenatally. I’d love to hear more about those adopters’ views on why they chose to pursue it. On the flip side, I work clinically in the genomics area, and I have seen numerous cases of non-genetics clinicians (and even some genetics clinicians) interpret genetic testing results at best, without acute caution/critique, and at worst, in erroneous ways. This has led to considerable psychosocial and economic costs to patients, families, and the healthcare system. As you know, there are a whole lot of conflicting interpretations of variants found via CES/CGS and NGS panels in ClinVar, and my large worry with prenatal CES/CGS (at this point anyway) is that normal people (i.e. non-genetics savvy folks) would be electing pregnancy terminations based on dubious interpretation of some sequence variants. As we move forward, we hope that patients/parents won’t be making their own interpretations of genetic testing and their reproductive decisions in a vacuum. What happens as these folks make decisions based on sometimes dubious interpretations of variants by well-meaning clinicians? I find myself as much a “genetic libertarian” as others following your posts, but I currently struggle with this topic.

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  3. I want to get the people who opt out sequenced anyway to find out the genetic factors for opting out.

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