Collecting genetic information in primary care: evaluating a new family history tool

Family Practice
N QureshiMichael Modell

Abstract

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. 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. 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. 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...Continue Reading

References

Feb 1, 1978·Journal of Medical Genetics·J ColeA D Merritt
Jun 30, 1990·BMJ : British Medical Journal·M Modell, B Modell
Jan 1, 1986·Journal of Chronic Diseases·S C HuntG K Barlow
Jan 1, 1982·Archives of General Psychiatry·W D ThompsonK K Kidd
Aug 1, 1994·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·K Offit, K Brown
Oct 2, 1993·BMJ : British Medical Journal·N Qureshi, J A Raeburn
Aug 1, 1997·American Journal of Epidemiology·R A Kerber, M L Slattery
Aug 22, 1997·American Journal of Medical Genetics·M T ScheunerJ I Rotter
Nov 6, 2001·The American Journal of Gastroenterology·L E Johns, R S Houlston
Feb 6, 2003·American Journal of Preventive Medicine·Paula W YoonMuin J Khoury
Mar 20, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Theresa M FrezzoKelly E Ormond
Jan 16, 2004·Gut·R J MitchellM G Dunlop
Mar 11, 2004·Journal of General Internal Medicine·Eugene C RichLouise Acheson

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Citations

Nov 28, 2012·Social Psychiatry and Psychiatric Epidemiology·Bauke T StegengaMichael King
Feb 12, 2013·Journal of Community Genetics·Tess ThompsonKimberly A Kaphingst
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Reed E Pyeritz
Nov 26, 2008·Psychology & Health·Hannah FarrimondPhilip H Evans
Jul 8, 2011·Alcohol and Alcoholism : International Journal of the Medical Council on Alcoholism·Irwin NazarethMichael King
Sep 25, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hamdan Al-HabsiJenny Hewison
Jun 13, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nadeem QureshiParminder Raina
May 19, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Flavia M FacioLeslie G Biesecker
Feb 4, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Miranda Wijdenes-PijlNadeem Qureshi
Jan 15, 2010·Annual Review of Public Health·Rodolfo ValdezMuin J Khoury
Jan 22, 2010·Public Health Genomics·C WangS M Miller
Jan 18, 2006·BMC Public Health·Michael KingIrwin Nazareth
Jan 2, 2010·The British Journal of Psychiatry : the Journal of Mental Science·Christian BottomleyMichael King
Oct 29, 2013·The European Journal of General Practice·Céline L M M de HoogHenri E J H Stoffers
Jan 9, 2010·The European Journal of General Practice·Arian W PlatHenri E J H Stoffers
Dec 19, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·W Gregory FeeroLeslie G Biesecker
Apr 1, 2017·The British Journal of General Practice : the Journal of the Royal College of General Practitioners·Juan Ángel BellónPatricia Moreno-Peral
Jun 6, 2013·The British Journal of General Practice : the Journal of the Royal College of General Practitioners·Fiona M WalterJon D Emery
Dec 5, 2018·The British Journal of General Practice : the Journal of the Royal College of General Practitioners·Flore LaforestAdrian Edwards
Jun 23, 2010·The Medical Journal of Australia·Andrew R LanglandsDavid Ravine

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