2015 report - genetics

Report of activities in the year

The SIG has been working with Genomics England Ltd (GEL) to involve academic primary care in the 100000K project.  A strong application was made for a primary care domain clinical interpretation partnership (CIP) to work with GEL, including members of the SAPC Genetics SIG. If accepted, we are likely to be working with HEE and others, such as public health. 

Members within the NIHR SPCR and SAPC SIG are building relevant genetic-related project.  International, taking the work on Familial  Hypercholesteramia  and Family history tools forward. Recently, IR attended the Personalised Medicine World Conference in Oxford in April and will provide feedback on  this to the SIG. 

Impact on primary care?

We are informing genetic-related NICE guidelines, such as, advising on the role of family history collection in cardiovascular disease risk assessment and familial breast cancer risk assessment.  This includes working with the relevant charities, for instance, working with Breakthrough Breast Cancer to improve identification of familial breast cancer risk in primary care.

Success stories

Members of the SIG have presented to All Parliamentary group on breast and ovarian cancer on role of primary care in identifying familial risk of breast & ovarian cancer

Both Nadeem Qureshi and Imran Rafi have collaborated on the DH/HEE rare diseases advisory group  Rare diseases information video.


Dhiman P, Kai J, Horsfall L, Walters K, Qureshi N. Availability and quality of coronary heart disease family history in primary care medical records: implications for cardiovascular risk assessment. PloS one. 2014;9(1):e81998..

Qureshi N, O'Flynn N, Evans G. Dealing with family history of breast cancer: something new, something old. Br J Gen Pract. 2014 ;64(618):6-7.

Middlemass JB, Yazdani MF, Kai J, Standen PJ, Qureshi N. Introducing genetic testing for cardiovascular disease in primary care: a qualitative study. Br J Gen Pract. 2014;64(622):e282-9.

Allford A, Qureshi N, Barwell J, Lewis C, Kai J. What hinders minority ethnic access to cancer genetics services and what may help? European journal of human genetics : EJHG. 2014;22(7):866-74.

Ulph F, Cullinan T, Qureshi N, Kai J. Informing children of their newborn screening carrier result for sickle cell or cystic fibrosis: qualitative study of parents' intentions, views and support needs. J Genet Couns. 2014;23(3):409-20.

Tuomainen H, Cross-Bardell L, Bhoday M, Qureshi N, Kai J. Opportunities and challenges for enhancing preconception health in primary care: qualitative study with women from ethnically diverse communities. BMJ open. 2013;3(7).

Reid GT, Walter FM, Emery JD. Psychosocial impact of family history screening in Australian primary care: A qualitative evaluation. J Genet Counselling 2015; 24:312–324. Doi:10.1007/s10897-014-9772-x.

Walter FM, Burton H, Emery J. Chronic disease prevention in primary care; how and when will genomics impact?  Br J Gen Pract. 2014; 64(624): 331-2. doi: 10.3399/bjgp14X680401.

Emery JD, Reid G, Prevost AT, Ravine D, Walter FM. Development and validation of a family history screening questionnaire in Australian primary care. Ann Fam Med 2014; 12: 241-249. doi: 10.1370/afm.1617.

Press articles relating to the genetics group

Nottingham Evening Post has reported on a genetic testing in primary care study developed by members of the group

If the primary care clinical interpretation partnership is accepted by GEL, we will do a clinical news article through the RCGP

Special interest group: