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.

Alpha-1 antitrypsin deficiency

“…Additionally, it plays a smaller role in defending against injury by other serine proteases, such as proteinase 3 and cathepsin G. 3 The protein is located on chromosome 14q32.1 and is encoded by the protease inhibitor (PI) locus. 2,4 This disorder is considerably underdiagnosed, and diagnosis is frequently delayed for many years due to the condition's unspecifi c symptoms and rare occurrence. 2,4 ■ Alpha-1 antitrypsin defi ciency Alpha-1 antitrypsin defi ciency was fi rst defi ned by Laurell and Eriksson in 1963 when they noted an absence of the alpha-1 band on protein electrophoresis of serum taken from a patient.…”

“…2,4 This disorder is considerably underdiagnosed, and diagnosis is frequently delayed for many years due to the condition's unspecifi c symptoms and rare occurrence. 4 This defi ciency is often connected with COPD, bronchiectasis, neonatal jaundice, liver disease, vasculitis, and panniculitis. 5 The diagnosis is often determined after the recognition of liver disease or COPD or after a family member has been diagnosed with the defi ciency.…”

“…5 Alpha-1 antitrypsin defi ciency often presents with nonspecifi c symptoms, such as dyspnea, wheezing, cough, bronchitis, and liver disease of unknown cause. 4,5 The risks of a decline in lung function and of developing symptoms are increased by cigarette smoking, exposure to dust and fumes, and recurrent respiratory infections. 4 This defi ciency is often connected with COPD, bronchiectasis, neonatal jaundice, liver disease, vasculitis, and panniculitis.…”

“…2,5 A number of individuals with this defi ciency may continue to be asymptomatic and have an ordinary lifespan. 4 Because alpha-1 antitrypsin is also produced in hepatocytes, it may also manifest as liver disease in infants, children, or adults. 3 The adult presentation of classic pulmonary alpha-1 antitrypsin defi ciency is severe early-onset emphysema with a basilar predominance; however, it may present in a diffuse distribution or largely in the upper lobes.…”

“…4 This defi ciency is often connected with COPD, bronchiectasis, neonatal jaundice, liver disease, vasculitis, and panniculitis. 4 The pediatric population's manifestations of liver symptoms can range from asymptomatic healthy children to severe liver failure in infancy that requires liver transplantation. 5 Lung disease does not usually present itself until adulthood after 30 years of age.…”