TY - JOUR
T1 - When knowledge of a heritable gene mutation comes out of the blue
T2 - treatment-focused genetic testing in women newly diagnosed with breast cancer
AU - Meiser, B.
AU - Quinn, V. F.
AU - Gleeson, M.
AU - Kirk, J.
AU - Tucker, K. M.
AU - Rahman, B.
AU - Saunders, C.
AU - Watts, K. J.
AU - Peate, M.
AU - Geelhoed, E.
AU - Barlow-Stewart, K.
AU - Field, M.
AU - Harris, M.
AU - Antill, Y. C.
AU - Mitchell, G.
AU - The TFGT Collaborative Group
AU - Gregory, P.
AU - Lipton, L.
AU - McKay, L.
AU - Senior, J.
AU - Lobb, L.
AU - Crowe, P.
AU - Matthews, A.
AU - Neil, G.
AU - Parasyn, A.
AU - Thomson, D.
AU - Duffy, J.
AU - Andrews, L.
AU - Gale, J.
AU - Fox, J.
AU - Hart, S.
AU - Smythe, C.
AU - White, M.
AU - Creighton, L.
AU - D'arcy, J.
AU - Grieve, S.
AU - Secomb, E.
AU - Henderson, M.
AU - O’Brien, J.
AU - Poliness, C.
AU - Hattam, A.
AU - Susman, R.
AU - Ung, O.
AU - Dickson, R.
AU - Moore, K.
AU - Bastick, P.
AU - Inder, S.
AU - Lynch, J.
AU - Schwartz, P.
AU - Zia, R.
AU - Mak, C.
AU - Snook, K.
AU - Spillane, A.
AU - Hopper, J.
AU - Bowman, M.
AU - Cheung, D.
AU - Edirimanne, S.
AU - Edwards, E.
AU - Elder, E.
AU - French, J.
AU - Moon, D.
PY - 2016/6/22
Y1 - 2016/6/22
N2 - Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.
AB - Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.
UR - http://www.scopus.com/inward/record.url?scp=84975522851&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2016.69
DO - 10.1038/ejhg.2016.69
M3 - Article
C2 - 27329735
AN - SCOPUS:84975522851
SN - 1018-4813
VL - 24
SP - 1517
EP - 1523
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 11
ER -