ATTITUDES TOWARD GENETIC COUNSELING AND TESTING IN PATIENTS WITH INHERITED ENDOCRINOPATHIES

作者：Gallagher Thomas M^*; Bucciarelli Maura; Kavalukas Sandra L; Baker Maria J; Saunders Brian D

来源：Endocrine Practice, 2017, 23(9): 1039-U120.

DOI：10.4158/EP171875.OR

Objective: Inherited endocrinopathies are rare tumor predisposition syndromes associated with significant morbidity and mortality and have implications for both patients and their families. Prior studies suggest that early diagnosis of inherited endocrinopathies may reduce morbidity and mortality. Although genetic counseling and testing can help inform the appropriate management of at-risk relatives, barriers to care still exist. We explored patient perceptions to identify barriers and promote the uptake of genetic counseling.
Methods: An anonymous survey of patients from a multidisciplinary inherited endocrinopathy clinic at a tertiary care, university-based medical center was conducted. Data collected and analyzed included demographics, socioeconomic status, perceived risks, benefits, and both motivating and dissuading factors to genetic counseling and testing.
Results: Our study suggests barriers to genetic testing include concerns regarding cost and the potential for discrimination with respect to employers and insurers.
Conclusion: This highlights the importance of genetic counseling to discuss benefits of genetic testing, while dispelling misperceptions. Knowledge of the common barriers to genetic counseling and testing can guide initiatives and education to foster genetic testing of at-risk relatives in the inherited endocrinopathy population.

• 出版日期2017-9