‘It runs in my family’ is an expression commonly used by patients. Family history is recorded as part of new patient checks, and it is usual to ask patients with symptoms suggestive of a disease with an inherited component about family history of that disease. As genetic technology has become cheaper and faster, it is increasingly applied outside the specialty of clinical genetics: paediatricians use comparative microarrays, prenatal testing is offered to many women in pregnancy and, in the fields of oncology and cardiology, genetic predispositions to disease are frequently sought. GPs are already seeing these developments impact on their practice and will inevitably become more involved in the genetic management of families as testing becomes more widespread.
ACMG (2016) Direct-to-consumer genetic testing: A revised position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine18: 207–208. doi: 10.1038/gim.2015.190.
3.
Aktan-CollanK.HaukkalaA.PylvänäinenK.JärvinenH. J.AaltonenL. A.PeltomäkiP.MecklinJ. P. (2007) Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing. Journal of Medical Genetics44: 732–738.
4.
BarrowP.GreenK.LallooC.HillJ.EvansD. G. (2015) Improving the uptake of predictive testing and colorectal screening in Lynch Syndrome: A regional primary care survey. Clinical Genetics87(6): 517–524. doi: 10.1111/cge.12559.
5.
BlackL.McClellanK.AvardD.KnoppersB. (2013) Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: Points to consider. Journal of Community Genetics4(2): 203–221. doi: 10.1007/s12687-012-0132-y.
DheensaS.FenwickA.LucassenA. (2016) ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about consent, confidentiality and information sharing in genetic medicine. Journal of Medical Ethics42(3): 174–179. doi: 10.1136/medethics-2015-102781.
8.
DheensaS.FenwickA.Shkedi-RafidS.CrawfordG.LucassenA. (2009) Health-care professionals’ responsibility to patients’ relatives in genetic medicine: A systematic review and synthesis of empirical research. Genetics in Medicine18(4): 290–310. doi: 10.1038/gim.2015.72.
9.
ForrestL. E.BurkeJ.BacicS.AmorD. (2008) Increased genetic counselling support improves communication of genetic information in families. Genetics in Medicine10(3): 167–172. doi: 10.1097/GIM.0b013e318164540b.
Joint Committee on Medical Genetics. (2011). Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information, second edition. Retrieved from www.bsgm.org.uk/media/678746/consent_and_confidentiality_2011.pdf.
12.
LucassenA. (2015) I had genetic testing for Alzheimer’s disease without my consent. Narrative Enquiry in Bioethics5(3): 214–216. doi: 10.1353/nib.2015.0071.
13.
PentzR. D.PetersonS. K.WattsB.VernonS. W.LynchP. M.KoehlyL. M.GritzE. R. (2005) Hereditary nonpolyposis colorectal cancer family members’ perceptions about the duty to inform and health professionals’ role in disseminating genetic information. Genetic Testing9: 261–268.
Shkedi-RafidS.DheensaS.CrawfordG.FenwickA.LucassenA. M. (2014) Defining and managing incidental findings in genetic and genomic practice. Journal of Medical Genetics51(11): 715–723. doi: 10.1136/jmedgenet-2014-102435.
16.
SuthersG. K.ArmstrongJ.McCormackJ.TrottD. (2006) Letting the family know: Balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. Journal of Medical Genetics43(8): 665–670. doi: 10.1136/jmg.2005.039172.
