Uptake of Genetic Counselling Services by Patients with Cystic Fibrosis and Their Families

Background: Although cystic fibrosis (CF) is a common genetic condition; genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals; and the impact of introducing hospital-based genetic counselling services.Method: The files of 153 families seen for genetic counselling for CF by staff of the Division of Human Genetics; School of Pathology; University of the Witwatersrand; and the National Health Laboratory Service (NHLS) in Johannesburg; were retrospectively reviewed from 1990 to 2006; the year when hospital-based genetic counselling services were introduced.Results: Parents of CF probands were the largest single group (35) of counsellees. Most individuals (66) attended genetic counselling to gather information. Most had been referred by medical specialists (56). Only 10 of referrals originated from general practitioners. On average; from 1990-2005; six families received genetic counselling annually; whereas in 2006; 58 families were seen. In 140 unrelated families; 1 991 relatives with carrier risks of ? 25 were identified. Only 11of these relatives underwent mutation testing; and eight per cent received genetic counselling through our division over the review period.Conclusion: Overall; referrals of family members (of affected CF individuals) to genetic counselling; by general practitioners; are poor. Uptake of genetic counselling services is greater when such services are integrated into hospital-based CF management clinics; than when offered elsewhere. The low uptake of mutation testing and genetic counselling by at-risk relatives is a concern; since these relatives are at high risk of having affected children; if their partners are CF carriers. Education of affected individuals; their close relatives; and medical practitioners; should be prioritised. This will ensure referral to genetic counselling for discussion about the risks of and available testing for CF; and other genetic conditions

Will genetic counselling be effective in controlling sickle cell disease in Ghana?

The knowledge; attitude and practices regarding birth control were studied in 183 adults with sickle cell disease and 61 parents of affected children in Accra. Knowledge of the aetiology of sickle cell disease was poor. Only 30 per cent of respondents volunteered that it is hereditary while 74 per cent attributed it to environmental causes or disease. When prompted; 75 per cent agreed it was hereditary but 20 per cent thought it came from relatives other than parents. Thirty-three per cent (33 per cent) of parents did not know their genotype; while 36 per cent of married patients and 51 per cent of parents did not know the genotype of their spouses. Only 10 per cent of patients knew their spouses' genotype before marriage. The possibility of transmitting the disease had limited the desired family size in half of married patients; and in 18 per cent of parents. However; 37 and 46 per cent respectively already had 4 or more children. A third of married respondents were using birth control methods. Fifty-eight per cent of unmarried patients were worried about transmitting the disease; and 48 per cent would test a prospective spouse and not marry a carrier. However; 22 per cent stated that the partner's genotype would not alter the decision to marry. While 38 per cent of married patients and 27.8 per cent of parents would consider changing their spouses because of the disease; 3.8 per cent of the married patients and none of the parents had actually done so. It is suggested that better education of the general public and patients about sickle cell disease is necessary for genetic counselling to have an impact on the control of the disease