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RECOMMENDATIONS FOR DELIVERING A WILLIAMS SYNDROME DIAGNOSIS SUGGESTED

Waxler et al (p. 534, DOI 10.1002/ajmg.a.35789) offer several specific recommendations to healthcare providers for improving the process of delivering a Williams syndrome (WS) diagnosis for parents.

WS is a microdeletion disorder caused by the loss of 26–28 contiguous genes mapping to chromosome 7q11.23. Potential features of WS include multisystem medical concerns, developmental delays, and intellectual disability. WS patients display empathy and good social and interpersonal skills, as well as relative cognitive strengths in selective language skills and long-term memory.

With improved diagnosis delivery in mind, the researchers surveyed members of the Williams Syndrome Association about recollections related to the diagnostic process.

Among the 600 respondents, 59.9% had at least some negative recollections about the experience. Factors associated with a more positive overall perception of the experience included receiving written information about WS and seeing a genetic counselor. Nearly 25% of respondents expressed a desire to be given hope when receiving the diagnosis.

Respondents' suggestions for better diagnosis delivery included engaging families in dialogue, and being compassionate and accurate. They also liked the idea of involving genetic counselors, connecting families with support groups and appropriate care providers, and helping parents develop an action plan, as opposed to providing a list of potential problems.

DOWN SYNDROME SPECIALTY CLINICS IDENTIFY TESTING NEEDS FOR PATIENTS

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A Down syndrome (DS) specialty clinic can identify and address many healthcare needs of children and adolescents with DS, write Skotko et al (p. 430, DOI 10.1002/ajmg.a.35795).

To determine a Down syndrome specialty clinic's value in the care of children and adolescents with DS, the researchers retrospectively reviewed charts of 105 DS patients, ages three and older, seen during the inaugural year of their specialty clinic. They counted how many patients were already up-to-date on the healthcare screenings recommended for people with DS, and analyzed which tests were ordered, which referrals were suggested, and which new diagnoses of co-occurring medical conditions had been made.

About 90% of patients did not have all the screening tests recommended by the American Academy of Pediatrics. Most patients already had been screened for atlantoaxial and occiptoaxial instability—likely because the radiologic test is a requirement for participation in athletic programs—but about half did not have ophthalmologic or audiologic evaluations within the past year. Approximately 56% of patients were up-to-date on their annual thyroid screens, and 45% of patients had been tested at least once for celiac disease.

The researchers made many new diagnoses of seasonal allergies, gastrointestinal conditions including constipation and celiac disease, and dermatologic conditions such as xerosis. The researchers also found many behavioral diagnoses such as autism spectrum disorder and disruptive behavior, and clarifications of neurologic conditions.

SURVEY REVEALS DIFFERENT VIEWS ON THE DISCLOSURE OF INCIDENTAL FINDINGS

Genetics professionals' views on returning incidental findings (IFs) from genomic sequencing vary according to the nature of particular findings, Lohn et al (p. 542, DOI 10.1002/ajmg.a.35794) report.

Since the issue of returning IFs beyond analytically valid and medically actionable results has been frequently debated, the researchers surveyed geneticists and genetic counselors in Canada about this topic.

Of the 210 respondents, the percentage who indicated that they would return IFs to patients ranged from 95%, who would disclose information pertaining to a serious and treatable condition, to 12%, who said they would report findings with social implications, such as paternity. A majority of respondents indicated that IFs pertaining to serious and treatable conditions and pharmacogenetic information should be disclosed for both pediatric and adult patients.

Three factors are typically involved in the decision to disclose an IF, namely condition-specific factors, test accuracy, and evidence indicating pathogenicity.

Most respondents reported they would consider disclosing carrier status information for conditions that appear clinically in adulthood, that are serious and untreatable, or that result from multiple factors. But, respondents would be less likely to disclose this information for a pediatric patient, they said.

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Factors affecting the decision to disclose an incidental finding.

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