Most pediatricians think parents or guardians should be able to opt out of hearing incidental genetic findings, even when the findings are actionable, according to a recent survey. That view is in line with the results of a separate study of adult patients showing they want to choose what types of secondary genetic findings they wish to receive.
The results were published online March 9 in the Canadian Medical Association Journal and online March 9 in Genome Research.
The researchers launched their studies after the American College of Medical Genetics and Genomics (ACMG) announced a list of 56 reportable conditions in March 2013.
56 Actionable Secondary Findings
Sequencing a patient's exome or genome to diagnose a disease leads to secondary (also called incidental or unsolicited) findings. Whether to report such findings depends on the likelihood of the disease developing (pathogenicity and penetrance), the severity of the illness, and actionability (medical and lifestyle interventions).
Initially, the ACMG policy statement required laboratories to report pathogenic variants in the 56 genes to clinicians and did not encourage patient choice with regard to which findings to learn about. Then a conflict arose concerning single-gene vs genome testing in children.
The ACMG's policy statement was against single-gene tests in children for adult-onset conditions (a situation in which a family member already has the disease), but the group subsequently clarified its position to recommend reporting adult-onset actionable conditions identified from sequencing children's genomes. (This is a scenario with no family history of the condition in which the child's diagnosis could help a parent who has a 50% probability of being at risk.)
The lack of an opt-out clause for parents and patients to receive these incidental findings spurred intense debate and led to the newly reported studies. After they were completed in April 2014, the ACMG added an "opt out" choice to the pediatric genome statement.
Pediatricians' Views
Miguel Barajas, BS, and Lainie Friedman Ross, MD, PhD, from the University of Chicago in Illinois, report in an article published online February 26 in the Journal of Pediatrics a broad consensus (>80%) among 179 pediatricians (of 320 contacted) that parents of children having their genomes sequenced have the right to opt out of receiving information on the 56 conditions on the American College of Medical Genetics and Genomics list.
All the pediatricians contacted were either members of the American Academy of Pediatrics Section on Bioethics (n = 183) or the Section on Genetics and Birth Defects (n = 148). When the researchers analyzed responses by section membership, they found that only 34.7% of bioethics members supported mandatory reporting of secondary findings, whereas 70.8% of genetics members did (P < .01).
In addition, approximately 30% of both groups did not think parents should have access to information about adult-onset diseases in their children. Bioethics members were also less likely to support testing a child for parental benefit compared with genetics members (34.5% vs 79.7%; P < .01). There was very little overlap between the two groups.
Limitations of this study are a response rate of 56.6% and the participation of members of only two groups.
Patients' Views
In the second study, published online March 9 in the Canadian Medical Association Journal, Dean A. Regier, PhD, from the Canadian Centre for Applied Research in Cancer Control, Vancouver, British Columbia, Canada, and colleagues note that patients were adept at analyzing the use of information on secondary findings.
The researchers gave a questionnaire posing 16 "choice tasks" that are hypothetical scenarios in which a participant chooses among two options and receiving no information on secondary findings. The options evaluated five characteristics of the situation: penetrance, treatability, severity, carrier status, and cost.
The 1200 participants, drawn from the Canadian public, considered "personal utility," which assesses the worth of a genomic test as if it is a commodity, and "cost," which refers to "willingness to pay" for certain knowledge expressed as monetary value.
Overall, participants assigned "positive utility" if diseases had at least an 80% lifetime risk, medical or lifestyle interventions, and severe symptoms. "Disutility" applied to disorders without interventions, with mild symptoms and receiving information on all disorders with a lifetime risk of 5% or greater.
For example, for reporting severe, medically treatable conditions with 80% lifetime risk, 66% of participants (95% CI, 63% - 71%) would choose to receive those findings; average willingness to pay was $445 (95% confidence interval [CI], $322 - $567). However, add "lifestyle change" to that scenario and 73% (95% CI, 69% - 77%) of respondents said they would want the results and would be willing to pay an average of $641 (95% CI, $520 - $762).
A limitation of the study is that the choices were hypothetical.
Dr Friedman Ross was a member of the bioethics group on which she reported but excluded herself from the data. The other researchers have disclosed no relevant financial relationships.
J Ped. Published online February 26, 2015. Abstract
CMAJ. Published online March 9, 2015. Full text
Genome Res. Published online March 9, 2015. Full text
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Cite this: Pediatricians Want Parent Choice for Genetic Reporting - Medscape - Mar 13, 2015.
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