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 im...
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| Format: | Article |
| Language: | English |
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AOSIS
2012-06-01
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| Series: | South African Family Practice |
| Subjects: | |
| Online Access: | https://safpj.co.za/index.php/safpj/article/view/1791 |
| _version_ | 1826552173142474752 |
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| author | S. Macaulay N. Gregersen A. Krause |
| author_facet | S. Macaulay N. Gregersen A. Krause |
| author_sort | S. Macaulay |
| collection | DOAJ |
| description | 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 11% of 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. |
| first_indexed | 2025-03-14T07:04:55Z |
| format | Article |
| id | doaj.art-a9c0b50ef3a74b51b888031871f5ed06 |
| institution | Directory Open Access Journal |
| issn | 2078-6190 2078-6204 |
| language | English |
| last_indexed | 2025-03-14T07:04:55Z |
| publishDate | 2012-06-01 |
| publisher | AOSIS |
| record_format | Article |
| series | South African Family Practice |
| spelling | doaj.art-a9c0b50ef3a74b51b888031871f5ed062025-03-04T09:11:00ZengAOSISSouth African Family Practice2078-61902078-62042012-06-0154310.1080/20786204.2012.108742234762Uptake of genetic counselling services by patients with cystic fibrosis and their familiesS. Macaulay0N. Gregersen1A. Krause2Division of Human Genetics, School of Pathology, University of the Witwatersrand, South Africa; and, National Health Laboratory ServiceDivision of Human Genetics, School of Pathology, University of the Witwatersrand, South Africa; and, National Health Laboratory ServiceDivision of Human Genetics, School of Pathology, University of the Witwatersrand, South Africa; and, National Health Laboratory ServiceBackground: 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 11% of 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.https://safpj.co.za/index.php/safpj/article/view/1791cystic fibrosisgenetic counsellingdoctor referralsat-risk relativescarrier testing |
| spellingShingle | S. Macaulay N. Gregersen A. Krause Uptake of genetic counselling services by patients with cystic fibrosis and their families South African Family Practice cystic fibrosis genetic counselling doctor referrals at-risk relatives carrier testing |
| title | Uptake of genetic counselling services by patients with cystic fibrosis and their families |
| title_full | Uptake of genetic counselling services by patients with cystic fibrosis and their families |
| title_fullStr | Uptake of genetic counselling services by patients with cystic fibrosis and their families |
| title_full_unstemmed | Uptake of genetic counselling services by patients with cystic fibrosis and their families |
| title_short | Uptake of genetic counselling services by patients with cystic fibrosis and their families |
| title_sort | uptake of genetic counselling services by patients with cystic fibrosis and their families |
| topic | cystic fibrosis genetic counselling doctor referrals at-risk relatives carrier testing |
| url | https://safpj.co.za/index.php/safpj/article/view/1791 |
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