Psychosocial outcome and health behaviour intent of breast cancer patients with BRCA1/2 and PALB2 pathogenic variants unselected by a priori risk

Abstract

There is an increasing number of cancer patients undertaking treatment-focused genetic testing despite not having a strong family history or high a priori risk of being carriers because of the decreasing cost of genetic testing and development of new therapies. There are limited studies on the psychosocial outcome of a positive result among breast cancer patients who are at low a priori risk, particularly in women of Asian descent. Breast cancer patients enrolled under the Malaysian Breast Cancer Genetic Study between October 2002 and February 2018 were tested for BRCA1, BRCA2 and PALB2 genes. All 104 carriers identified were invited by a research genetic counsellor for result disclosure. Of the 104 carriers, 64% (N = 66) had low a priori risk as determined by PENN II scores. Psychosocial, risk perception and health behaviour measures survey were conducted at baseline (pre-result disclosure), and at two to six weeks after result disclosure. At baseline, younger carriers with high a priori risk had higher Cancer Worry Scale scores than those with low a priori risk but all scores were within acceptable range. Around 75% and 55% of high a priori risk carriers as well as 80% and 67% of low a priori risk carriers had problems in the "living with cancer" and "children" psychosocial domains respectively. All carriers regardless of their a priori risk demonstrated an improved risk perception that also positively influenced their intent to undergo risk management procedures. This study has shown that with sufficient counselling and support, low a priori risk carriers are able to cope psychologically, have improved perceived risk and increased intent for positive health behaviour despite having less anticipation from a family history prior to knowing their germline carrier status.

Fig 1. Study flow chart.

Abbreviations: N, Number of participants.

Fig 2. Psychosocial Aspects of Hereditary Cancer (PAHC) of 22 carriers pre- and post-result disclosure (two to six weeks after result disclosure).

P-values for McNemar’s test comparing baseline and post-result disclosure for each domain for high and low a priori risk independently. High a priori risk carriers, N = 12; Low a priori risk carriers, N = 10.

Fig 3. Risk perception of 22 carriers towards their own hereditary cancer, breast cancer and ovarian cancer risks.

High a priori risk carriers, N = 12; Low a priori risk carriers, N = 10.

Fig 4. Utilisation (within the past 6 months prior to pre-questionnaire); intent (planning to carry out within the next 12 months after post-questionnaire) of screening and prophylactic surgery.

High a priori risk carriers (N = 12) and Low a priori risk carriers (N = 10).