title: The Alpha-1 Association Genetic Counseling Program: an innovative approach to service.
abstract: 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.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, Charleston, SC 29425-6300, USA. mcgeeda@musc.edu
authors.forename: Dawn
authors.initials: D
authors.lastname: McGee
authors.forename: Charlie
authors.initials: C
authors.lastname: Strange
authors.forename: Rebecca
authors.initials: R
authors.lastname: McClure
authors.forename: Laura
authors.initials: L
authors.lastname: Schwarz
authors.forename: Marlene
authors.initials: M
authors.lastname: Erven
mesh_terms: D005817:Genetic Counseling / Q000458:organization & administration*; D009936:Organizational Innovation; D012017:Referral and Consultation / Q000706:statistics & numerical data; D019896:alpha 1-Antitrypsin Deficiency / Q000523:psychology / Q000628:therapy*