BACKGROUND: The family history is a time-honoured method for identifying genetic predisposition. In specialist practice the standard approach is to draw up a family tree based on a genetic pedigree interview, but this is too time-consuming and focused on single gene disorders to be applicable in primary care. OBJECTIVES: To assess the ability of a brief self-administered Family History Questionnaire (FHQ), given to patients when they register with a GP, to identify genetic risk. METHODS: A comparative study. Informants completed an FHQ at registration, and later participated in a genetic pedigree interview. Two clinical geneticists independently scored results obtained with each instrument. Discrepancies were agreed by consensus. The genetic risks identified by the two instruments were compared. RESULTS: 326 new registrants completed the FHQ, and 121 also completed the genetic interview. 24% of FHQs and 36% of genetic interviews resulted in a score 'higher than population risk'. There was 77% agreement in the scores obtained with the two instruments, with a moderate kappa of 0.52. (95% CI 0.40-0.64). There was 90% agreement in the scores for a family history of premature coronary heart disease (Kappa 0.67; 95% CI 0.49 to 0.85). The instruments were equally effective in identifying ethnicity-related risk of common recessive disorders. CONCLUSIONS: The FHQ identified most informants with genetic risks that are appropriately addressed in primary care-those with a family history of premature coronary heart disease, those warranting specialist referral, and those who might appropriately be offered carrier testing. However, it was less effective in identifying those with a possible Mendelian disorder for whom more information was required.
BACKGROUND: The family history is a time-honoured method for identifying genetic predisposition. In specialist practice the standard approach is to draw up a family tree based on a genetic pedigree interview, but this is too time-consuming and focused on single gene disorders to be applicable in primary care. OBJECTIVES: To assess the ability of a brief self-administered Family History Questionnaire (FHQ), given to patients when they register with a GP, to identify genetic risk. METHODS: A comparative study. Informants completed an FHQ at registration, and later participated in a genetic pedigree interview. Two clinical geneticists independently scored results obtained with each instrument. Discrepancies were agreed by consensus. The genetic risks identified by the two instruments were compared. RESULTS: 326 new registrants completed the FHQ, and 121 also completed the genetic interview. 24% of FHQs and 36% of genetic interviews resulted in a score 'higher than population risk'. There was 77% agreement in the scores obtained with the two instruments, with a moderate kappa of 0.52. (95% CI 0.40-0.64). There was 90% agreement in the scores for a family history of premature coronary heart disease (Kappa 0.67; 95% CI 0.49 to 0.85). The instruments were equally effective in identifying ethnicity-related risk of common recessive disorders. CONCLUSIONS: The FHQ identified most informants with genetic risks that are appropriately addressed in primary care-those with a family history of premature coronary heart disease, those warranting specialist referral, and those who might appropriately be offered carrier testing. However, it was less effective in identifying those with a possible Mendelian disorder for whom more information was required.
Authors: Juan Ángel Bellón; Juan de Dios Luna; Michael King; Irwin Nazareth; Emma Motrico; María Josefa GildeGómez-Barragán; Francisco Torres-González; Carmen Montón-Franco; Marta Sánchez-Celaya; Miguel Ángel Díaz-Barreiros; Catalina Vicens; Patricia Moreno-Peral Journal: Br J Gen Pract Date: 2017-04 Impact factor: 5.386
Authors: C Noel Bairey Merz; Mark J Alberts; Gary J Balady; Christie M Ballantyne; Kathy Berra; Henry R Black; Roger S Blumenthal; Michael H Davidson; Sara B Fazio; Keith C Ferdinand; Lawrence J Fine; Vivian Fonseca; Barry A Franklin; Patrick E McBride; George A Mensah; Geno J Merli; Patrick T O'Gara; Paul D Thompson; James A Underberg Journal: J Am Coll Cardiol Date: 2009-09-29 Impact factor: 24.094
Authors: Liesbeth Claassen; Lidewij Henneman; A Cecile J W Janssens; Miranda Wijdenes-Pijl; Nadeem Qureshi; Fiona M Walter; Paula W Yoon; Danielle R M Timmermans Journal: BMC Public Health Date: 2010-05-13 Impact factor: 3.295
Authors: Nadeem Qureshi; Sarah Armstrong; Paula Saukko; Tracey Sach; Jo Middlemass; Phil H Evans; Joe Kai; Hannah Farrimond; Steve E Humphries Journal: BMC Health Serv Res Date: 2009-10-12 Impact factor: 2.655