ATTITUDES TOWARD GENETIC COUNSELING AND TESTING IN PATIENTS WITH INHERITED ENDOCRINOPATHIES.
| Autor: | Gallagher TM, Bucciarelli M, Kavalukas SL, Baker MJ, Saunders BD |
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| Jazyk: | angličtina |
| Zdroj: | Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists [Endocr Pract] 2017 Sep; Vol. 23 (9), pp. 1039-1044. Date of Electronic Publication: 2017 Jun 14. |
| DOI: | 10.4158/EP171875.OR |
| Abstrakt: | 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. Abbreviations: FMTC = familial medullary thyroid carcinoma GINA = Genetic Information Nondiscrimination Act MEN1 = multiple endocrine neoplasia 1 MEN2A = multiple endocrine neoplasia 2A MEN2B = multiple endocrine neoplasia 2B MTC = medullary thyroid cancer PGL-PCC = paraganglioma-pheochromocytoma. |
| Databáze: | MEDLINE |
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