Incidental findings [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Aug 21, 2020

---

• Health-care practitioners’ preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment
  S Jiang et al, Genetics in Medicine, AUgust 21, 2020
• Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
  Kuo Chieh-Wen et al. Molecular genetics & genomic medicine 2020 Aug e1455
• Participant choices for return of genomic results in the eMERGE Network
  C Howell et al, Genetics in Medicine, July 16 2020
• Differences in Conceptual Understanding of the "Actionability" of Incidental Findings and the Resultant Difference in Ethical Responsibility: An Empirical Study in Japan.
  Ibuki Tomohide et al. AJOB empirical bioethics 2020 Jul 1-8
• Frequency of genomic secondary findings among 21,915 eMERGE network participants
  Emerge Working Group, Genetics in Medicine, June 17, 2020
• Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
  Okano Tsubasa et al. Journal of clinical immunology 2020 Jun
• A structural variation reference for medical and population genetics.
  Collins Ryan L et al. Nature 2020 May 581(7809) 444-451
• Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on endocrine hypertension of the European society of hypertension.
  Lenders Jacques W M et al. Journal of hypertension 2020 May
• Quality of life drives patients’ preferences for secondary findings from genomic sequencing
  C Mighton et al, Eur J Hum Genet May 18, 2020
• Shortened consent forms for genome-wide sequencing: Parent and provider perspectives.
  Hitchcock Emma C et al. Molecular genetics & genomic medicine 2020 May e1254

more