Screening for carriers of cystic fibrosis through primary health care services.

TLDR

The study aimed to evaluate how many patients would accept cystic fibrosis carrier testing when offered through primary health care services. Carrier testing was offered to reproductive‑age patients in three general practices and four family‑planning clinics in South West Hertfordshire, involving over 1,000 participants aged 16‑44. When offered opportunistically, uptake was 66% in general practice and 87% in family‑planning clinics; 10% accepted a letter invitation, and among those tested, 76% had heard of cystic fibrosis, 35% knew it was inherited, 18% knew carriers need not have family history, and 39% would consider avoiding pregnancy if at risk, though most were uncertain about their reactions.

Abstract

OBJECTIVE--To evaluate the uptake of cystic fibrosis carrier testing offered through primary health care services. DESIGN--Carrier testing for cystic fibrosis was offered to patients of reproductive age through primary health care services. SETTING--Three general practice surgeries and four family planning clinics in South West Hertfordshire District Health Authority. SUBJECTS--Over 1000 patients aged 16-44 attending two general practices and four family planning clinics and a stratified random sample of patients aged 16-44 from one general practice9s age-sex register. RESULTS--When screening was offered opportunistically the uptake was 66% in general practice and 87% in family planning clinics. Ten per cent of those offered a screening appointment by letter took up the invitation. Of the screened population, 76% had previously heard of cystic fibrosis, 35% realised it is inherited, and 18% realised that carriers need not have any family history. If they found themselves in an "at risk" partnership 39% would consider not having children and 26% would consider terminating an affected pregnancy, but in each case most people were unsure how they would react. CONCLUSIONS--Most people offered a cystic fibrosis test opportunistically wish to be tested, and the responses of those tested indicate that knowledge of carrier state would be considered in future reproductive decisions.