Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

• DOI: 10.1017/thg.2014.65
• Publication Date: 2014-11-28T17:41:20Z
• Authors: Martin B. Delatycki; Jo Burke; Louise Christie; Felicity Collins; Michael Gabbett; Peter George; Eric Haan; Liane Ioannou; Nicole Martin; Fiona McKenzie; Peter O’Leary; Nicole Scoble-Wil...; Gillian Turner; John Massie
• Keywords: Carrier testing; Position statement

Since the discovery in 1989 that mutations cystic fibrosis transmembrane conductance regulator (CFTR) underlie (CF), most common life shortening genetic disorder Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society Australasia produced a position statement with recommendations relation population-based screening for CF. These include: (1) should be offered all relatives people or CF (cascade testing) as well couples planning have children who are pregnant; (2) minimum CFTR panel tested consists 17 which those associated typical and occur frequency 0.1% higher among individuals diagnosed Australasia; (3) counselling is where both members known one two such given opportunity meet physician expertise management family/individual by condition.