Research priorities of people living with Turner syndrome

Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):43-51. doi: 10.1002/ajmg.c.31676. Epub 2019 Feb 15.


Despite major discoveries, traditional biomedical research has not always addressed topics perceived as priorities by patients and their families. Patient-centered care is predicated on research taking such priorities into account. The present study surveyed women with Turner syndrome (TS; 18+ years; n = 543), parents of women with TS (n = 232), and parents of younger daughters with TS (<18 years; n = 563), regarding their priorities for research. The study also included a quantitative audit of research categorized as either predominantly biomedical or psychological in the medical and other scientific literature. The overwhelming majority of all surveyed stakeholders (84% and higher) rated both biomedical and psychological research in TS as "very important," yet only approximately 9% of published research focused on psychological aspects of TS. The odds of women with TS identifying psychological research as "most important" was significantly lower (OR: 0.607; 95% CI: 0.375, 0.982] than the odds of parents making the same prioritization. Despite the majority of participants rating research as very important, only approximately half-rated participation in research as similarly important. The majority of respondents in all three groups (59%-73%) indicated they would "very likely" participate in research pertaining to eating or nutrition, quality of life, or genetic studies in TS. Substantially fewer expressed similar eagerness to participate in studies involving the study of a new medicine or medical device. Increased engagement of patient and family stakeholders in research requires that investigators select topics of study important to that community.

Keywords: Turner syndrome; patient-centered; research priorities; survey.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Humans
  • Patient Participation* / psychology
  • Research*
  • Surveys and Questionnaires
  • Turner Syndrome* / psychology
  • Young Adult