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Abstract
Noninvasive, prenatal whole genome sequencing (NIPW) may be a technological reality in the near future, making available a vast array of genetic information early in pregnancy at no risk to the fetus or mother. Many worry that the timing, safety, and ease of the test will lead to informational overload and reproductive consumerism. The prevailing response among commentators has been to restrict conditions eligible for testing based on medical severity, which imposes disputed value judgments and devalues those living with eligible conditions. To avoid these difficulties, we propose an unrestricted testing policy, under which prospective parents could obtain information on any variant of known significance after a careful informed consent process that uses an interactive decision aid to deliver a mandatory presentation on the purposes, techniques, and limitations of genomic testing, as well as optional resources for reflection and consultation. This process would encourage thoughtful, informed deliberation by prospective parents before deciding whether or how to use NIPW.
FUNDING
Supported by the Intramural Research Program at the National Institutes of Health (NIH).
DISCLAIMER
The views expressed are the authors’ and do not represent the views or policies of the NIH, DHHS, or the U.S. government.
Notes
1. The process bears some similarity to a proposal by two practicing OBGYNs to provide universal prenatal genetic counseling for choosing among 3000 available tests: “The process could being with an instructive video or group session … [before] each couple complete a questionnaire … [and a] genetic counselor would … use the information obtained … to determine which screening or testing modality would be most appropriate” (Minkoff and Berkowitz Citation2014).
2. Prospect theory, the account that has been found to best fit prenatal decision making, posits a probability-weighting function that underweights high objective probabilities (close to 1) and overweights low objective probabilities (close to 0). This divergence between objective and subjective probabilities interacts with a value function that is “steeper” for loss than for gain, making people risk-averse with respect to a given baseline. The value function also levels off for both higher gains and losses, reflecting diminishing sensitivity at greater magnitudes. Given the baseline of “bearing a healthy baby,” prospect theory predicts that prospective parents will be risk averse with respect to any “losses” in the form of genetically based health conditions, but will display gradually less sensitivity for increases in medically assessed severity. At the same time, the theory predicts that they would tend to overestimate the objectively lower probabilities associated with more severe conditions. Thus, prospect theory predicts significant but different departures from an expected utility model for judgments about severe, moderate, and mild conditions (Seror Citation2008).
3. A recent study (Shiloh et al. 2015) finds that the risk perceptions of adults who received the results of multiplex testing were fairly stable, with individual changes corresponding closely to the number of risk factors found. If it applied to NIPW as well, this would be a reassuring finding for both restricted and unrestricted testing.
4. Our proposed consent process would also alleviate concern about the voluntary character of parental consent to NIPT. Women offered NIPT at the Cleveland Clinic worried that the timing, ease, and safety of the test might sharpen the perception that uptake is expected, reinforcing social pressures to test (Farrell, Agatisa, and Nutter Citation2014). Our consent process, described in the next section, would emphasize that prospective parents need not test at all, or test for any specific type of condition. Clearly, that emphasis cannot insulate them from social pressure, but it can give them the support and insight to resist that pressure and limit its influence on their decisions. In contrast, restrictions on the kind of conditions they could test for might well convey that the conditions they were permitted to test for were also those for which they were expected to terminate, a potentially coercive message (Lewis, Silcock, and Chitty Citation2013, 225–226).
5. This line-drawing problem confronts Christian Munthe's argument for a “severity” restriction based on concern about parental burdens, not frivolity (Munthe Citation2015). Munthe would limit public funding to tests for “a much more narrowly selected range of particularly severe conditions”—those for which, even in an affluent society, “no conceivable extent of societal adaptation or support will reduce the burdens to parents sufficiently to make access to [prenatal testing] into a mere luxury product” (Munthe Citation2015, 44). Munthe suggests that even such medically demanding, life-shortening conditions as cystic fibrosis would fail to satisfy his severity standard. But he still faces the problem of setting an invariant standard of parental burden. Consider life expectancy. Some older couples might well find the prospect of raising a child with a severe intellectual disability but a normal life expectancy more burdensome than raising a child with no intellectual impairments but a much shorter life expectancy. They would regard their inability to make adequate provisions for that child when it became an orphaned adult as a failure to fulfill their parental duties. Younger couples might have the reverse preference, confident that at least one of them would live long enough to make secure arrangement for of a child with severe intellectual disabilities, but regarding the near certainty of outliving their child as unacceptable.
6. We offer our proposal only for countries like the United States, with demographically acceptable sex ratios and no strong overall preference for one sex, and not for countries like China, where sex selection has led to demographic imbalance and acute social challenges.
7. One concern about the nondisclosure of low probabilities is that a fetus may have an unusually large number. Benjamin Berkman has suggested to us that in such circumstances, the RHP should, if requested, inform prospective parents. Although this may be a reasonable option for prospective parents to select, it is not included in the current proposal, because of unresolved questions about what increase over the average should count as “unusually high” and whether severity should be taken into account.
8. The decision aid will be available through various electronic platforms, including computers, tablets, and possibly phones. It will resemble other aids that have been developed for medical decision making. Its development will take into account the utility of those aids (O'Connor et al. Citation2009) and criteria that have been put forward to develop quality patient decision aids, including functions to help clarify values and options (Elwyn et al. Citation2006).
9. These categories are also similar to those developed for carrier testing by Wilfond and Goddard, who categorize autosomal recessive conditions as shortening life span, serious, mild, adult onset, and unpredictable (Wilfond and Goddard Citation2015).
10. The severity level assigned each condition will take into account standard-of-care treatment for that condition given its typical expression. For example, if a type of congenital heart disease can be significantly ameliorated with low-risk, widely available neonatal heart surgery, giving most children with that condition a clinical profile similar to that of children with moderate asthma, then that congenital heart disease and moderate asthma would be assigned to the same severity category on our grid. In addition, we assume that parents will take standard preventive measures for their child's health, so genetic susceptibility to a serious but easily preventable or treatable disease does not appear on the grid as a “severe” condition. This avoids misrepresenting the kind of life the child is likely to have.
11. Our grid is similar in this respect to one developed by two medical professionals to categorize genetic conditions (Rolland and Williams Citation2005)
12. “In the near future, at least, the fear of ‘genetic consumerism’ seems greatly exaggerated. Not only is the detection of genetic variations predisposing to [desired] traits likely to remain elusive, but parental expectations for their children's biological endowment are generally modest . . .—‘as long as it has ten fingers and ten toes.’ This expectation, however, is double-edged. It reveals a lack of perfectionist aspirations, but also an anxiety about babies with more or less than the standard complement of fingers—or any significant disability” (Wasserman, Citation2003).