Sign in Subscribe
Pediatrics

Secondary Findings in Pediatric Genomic Testing: Insights from a Turkish Cohort

Strategic Insights

— 1 min read

A new report from a Turkish study has shed light on the management of secondary findings (SFs) in pediatric populations undergoing whole exome and genome sequencing. Researchers from the University of Health Sciences analyzed data from 980 Turkish pediatric patients, examining the frequency, characteristics, and familial implications of SFs. The study found that 1.9% of patients had actionable variants, with cancer predisposition and cardiovascular conditions being the most commonly affected genes. The results emphasize the need for a balanced approach to returning SFs in pediatric care, weighing clinical benefit against ethical responsibility.

Key Takeaways:

  • The study analyzed data from 980 Turkish pediatric patients, identifying actionable variants in 1.9% of patients.
  • The most commonly affected genes were associated with cancer predisposition syndromes and cardiovascular conditions.
  • The study's findings are consistent with global literature, but contribute novel, age, and population-specific data.
  • Most identified variants were inherited, underscoring opportunities for early diagnosis and management in children and asymptomatic parents through cascade screening.
  • The study highlights the need for a balanced approach to returning SFs in pediatric care, considering both clinical benefit and ethical responsibility.
  • The results may inform policy development in pediatric care, particularly in resource-limited settings.
  • The study provides age-specific insights into the prevalence and characteristics of actionable variants in pediatric populations.
  • The ACMG SF list structure predominantly identified cancer and cardiac genes, as seen in previous studies.

Statistics:

  • 1.9% of patients had actionable variants identified.
  • Cancer predisposition and cardiovascular conditions were the most commonly affected genes.
  • Most identified variants were inherited (99%).
  • 3.02% overall frequency of SFs was reported in the eMERGE study.
  • The typical age of disease onset differed, potentially impacting clinical management in pediatric settings.
  • A significant proportion of variants were consistent with the ACMG/AMP guidelines (reporting only variants classified as Pathogenic or Likely Pathogenic).

Sources:

  • European Journal of Pediatrics, 2025;184(9):584.
  • Secondary findings in pediatric genomic testing: clinical insights from Turkey. European Journal of Pediatrics.
  • Springer, One New York Plaza, Suite 4600, New York, Ny, United States.
  • University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey.
  • Yasemin Kendir-Demirkol, Dept. of Pediatric Genetics.
  • NewsRx LLC. Findings from University of Health Sciences in Cancer Reported (Secondary findings in pediatric genomic testing: clinical insights from Turkey). Pediatrics Week. September 20, 2025; p 319.

Read more