Genetics Professionals’ Opinions of Whole‐Genome Sequencing in the Newborn Period

Abstract

Newborn screening (NBS) programs have been successful in identifying infants with rare, treatable, congenital conditions. While current programs rely largely on biochemical analysis, some predict that in the future, genome sequencing may be used as an adjunct. The purpose of this exploratory pilot study was to begin to characterize genetics professionals' opinions of the use of whole-genome sequencing (WGS) in NBS. We surveyed members of the American College of Medical Genetics and Genomics (ACMG) via an electronic survey distributed through email. The survey included questions about results disclosure, the current NBS paradigm, and the current criteria for adding a condition to the screening panel. The response rate was 7.3 % (n = 113/1549). The majority of respondents (85 %, n = 96/113) felt that WGS should not be currently used in NBS, and that if it were used, it should not be mandatory (86.5 %, n = 96/111). However, 75.7 % (n = 84/111) foresee it as a future use of WGS. Respondents felt that accurate interpretation of results (86.5 %, n = 83/96), a more extensive consent process (72.6 %, n = 69/95), pre- (79.2 %, n = 76/96) and post-test (91.6 %, n = 87/95) counseling, and comparable costs (70.8 %, n = 68/96) and turn-around-times (64.6 %, n = 62/96) to current NBS would be important for using WGS in NBS. Participants were in favor of disclosing most types of results at some point in the lifetime. However, the majority (87.3 %, n = 96/110) also indicated that parents should be able to choose what results are disclosed. Overall, respondents foresee NBS as a future use of WGS, but indicated that WGS should not occur within the framework of traditional NBS. They agreed with the current criteria for including a condition on the recommended uniform screening panel (RUSP). Further discussion about these criteria is needed in order to better understand how they could be utilized if WGS is incorporated into NBS.

Whole-Genome Sequencing in Newborn Screening—Attitudes and Opinions of Bulgarian Pediatricians and Geneticists

“…Previous studies extensively presented geneticists’, genetic counselors’, and parents’ perspectives, as well as general public views on WGS in NBS ( 5 , 12 , 14 – 17 ). To our best knowledge, our survey is the first to explore and cross-compare opinions of pediatricians and geneticists.…”

“…Scope and format of the study were based on previous experiences by Ulm et al and Joseph et al, as well as on the outcomes of an evaluation study of NBS for rare disorders in the Member States of the European Union (EU) in 2012 ( 5 , 12 , 13 ). The survey questionnaire consisted of 20 questions.…”

Malignant hyperthermia: a review

“…It is also important to note that availability of the various forms of genome sequencing will place an additional burden on both the genetic counselor and the families concerned as well as the clinician ordering the test since genetic variants will sometimes be identified as an incidental finding on whole exome or whole genome testing [ 154 ]. Implications for the new born should also be considered [ 155 ].…”

Preferences for the provision of whole genome sequencing services among young adults

“…Research with children [19], adults [38], and genetics professionals [20] indicate a strong endorsement of providing options, as did the participants in this study. The young adults stated that choice was very important to them and expressed lower willingness to be tested if clinicians made all choices about what results were reported.…”

“…Older adults tend to prefer the option of choice in genetic testing and some evidence indicates that they would deliberately select among different types of genetic information if given the opportunity [17–19]. Genetics professionals also express support for patient choice among types of WGS information [20,21]. However, the wide scope of information provided by WGS presents a major challenge for achieving fully informed decision-making and too many options may distort decision-making processes [22].…”