The Alpha-1 Association Genetic Counseling Program: An Innovative Approach to Service

作者：McGee Dawn^*; Strange Charlie; McClure Rebecca; Schwarz Laura; Erven Marlene

来源：Journal of Genetic Counseling, 2011, 20(4): 330-336.

DOI：10.1007/s10897-011-9355-z

• Alpha-1 Antitrypsin deficiency
• Disease-specific genetic counseling
• Non-traditional counseling
• Genetic counselor
• Telephone counseling

In an era of specialty medicine, genetic counselors are becoming increasingly focused in their service provision. The Alpha-1 Association Genetic Counseling Program, established in September 2007, specializes in confidential toll-free genetic counseling provided by a certified genetic counselor for Alpha-1 Antitrypsin deficiency, a co-dominant condition associated with lung and/or liver disease. The program received more than 600 callers in its first 2 years. Sixty-seven percent of new callers were family members, carriers, or health professionals. The number of callers increased between the first 2 years, with the greatest increases being family members and health professionals. Testing options and explanation of results encompassed 60% of initial reasons for calls. Seventy-two percent of referrals came from family and friends, test result letters, and the Alpha-1 Association. Between year 1 and 2 family member referrals showed the largest increase. This disease-specific genetic counseling program provides a model that may be useful for other rare disease communities.

• 出版日期2011-8