Impact of the genetic screening revolution: understanding and meeting the needs of previvors with a known family mutation in BRCA/BRCA2
- Correspondence to Suzanne M Mahon
Saint Louis University Cancer Center, 3rd Floor West Pavilion, 3655 Vista Avenue, St Louis, MO 63110, USA;
Implications for practice and research
▪ The increasing availability of genetic testing enables other family members who have not yet developed breast cancer to determine if they have inherited the risk; those with a mutation are known as previvors.
▪ Once a previvor is identified, they are faced with complicated, and often difficult, decisions regarding prophylactic surgery, chemoprevention or aggressive screening.
▪ Persons considering genetic testing need to understand the potential impact of testing for themselves and family including recommended measures for management before undergoing testing.
▪ Further nursing research is needed to identify the best means to communicate risk and genetic testing results.
Approximately 10% of all women diagnosed with breast cancer have a genetic predisposition most commonly associated with mutations in BRCA1/BRCA2.1 Once a mutation is identified within a family, other first degree relatives have a 50% chance of also having the mutation, which places them at increased risk (up to 90% lifetime risk of breast cancer and 50% risk of developing ovarian cancer). Known as previvors, these individuals must be provided with comprehensive and impartial information to help them decide how to manage this substantial risk.2 Ideally, primary prevention strategies are utilised, which include prophylactic mastectomy and prophylactic salpingo-oophorectomy. Secondary prevention activities might include more aggressive screening including the use of breast MRI and pelvic ultrasound.
This study of 19 women aged 18–50 utilised Heideggerian qualitative methodology with purposive and network sampling techniques. The women participated in taped in-depth interviews (in person or via telephone) which lasted 40–60 min. The transcripts were checked for accuracy and analysed by a team using a structured process to assure the dependability and auditability of the findings.
Five themes emerged which included: (1) situating or telling the family story, (2) learning about and the meaning of the elevated risk from the family, (3) responding to the information by validation with a healthcare provider and genetic counselling, (4) impact of information on family communication and (5) advice for healthcare professionals communicating risk. Two patterns regarding risk communication were identified: (1) impact of communicating risk as a message of fear and empowerment and (2) the process of integrating the message by taking one step at a time.
In this study, Croster and Dickerson examined a small number of women who were offered genetic counselling after receiving genetic testing results. The sample included primarily well-educated, middle to upper class, insured, Caucasian women. The needs and experiences of other groups including minorities, the less educated, and those of lower socioeconomic status may not have been captured. This may have been due to the sole recruitment by flyers in breast cancer support groups; the sample did not reflect women who do not engage in support groups or seek genetic testing. Future studies need to include recruitment strategies to produce a more diverse sample. The needs and experiences of those who had genetic counselling before testing might be substantially different. The methodology was appropriate to glean in-depth information on the needs of this specific population. Until the specific needs and experience of this population is understood, it will be impossible to develop intervention studies to facilitate adjustment to the diagnosis of hereditary predisposition. The data collection methods and analysis were clearly described and included direct steps to assure the data were credible. The impact of reflexivity is not completely clear, and there is no discussion of whether participants became distressed during a potentially emotionally charged interview and, if so, what steps were taken to manage any distress. This is a potential risk in interviewing in this population. Any steps the researcher might have taken to manage distress could have impacted the interview and potentially the results. The results provide some important considerations for all healthcare professionals as they care for this population.
The researchers have gathered data which may illustrate some of the challenges in communicating genetic information and the significance of how the message of increased risk is framed on later outcomes and adjustment. The results may not be surprising; genetic testing for BRCA1/2 is emotionally charged and associated with many difficult decisions.3 The stories described in this study clearly reflect how important it is for patients to be supported in the long term and educated by someone outside of the family.4
The sample included women who had received genetic counselling after genetic testing. Although this is the norm in many places, this study clearly illustrates many of the limitations of this approach.5 Many women and healthcare providers mistakenly believe genetic testing to be a simple blood test; however, it also requires educating women about their risk, and if appropriate, selecting the proper test, and ensuring women have adequate pretest counselling and anticipatory guidance regarding how to manage the potential outcomes of testing.5 Messages from the media, including direct-to-consumer advertising and pressure from testing companies to clinicians, suggest that tests are easy to order and to interpret. As a result, genetic testing has moved away from trained genetics professionals.6 Unfortunately, many potential negative aspects of genetic testing will be overlooked with that approach and may result in poor outcomes for patients and families.7 Ideally, before genetic testing, women should receive genetic counselling in which they are informed of their risk of having a mutation, the proposed management strategies for a positive and negative result, an exploration of the motivations for testing and consideration of the impact on family relationships, available support systems and how the genetics professional will coordinate follow-up care and provide ongoing support as needed. This is the standard of care from genetics professionals; these are also the recommendations of the women in the study. The importance of anticipatory guidance should not be underestimated. Potential problems with adjustment, or follow-up with recommendations, can be identified and addressed before testing; when results are disclosed, patients should be better prepared to deal with the results and potentially difficult decisions.
The term previvor is a relatively new one and appropriately describes an entire new population of patients with specific psychosocial and healthcare needs.2 3 Many healthcare providers will have limited experience providing services to these women; this study suggests that these women have unique needs and do not want to be treated as a diagnosis, but as an individual. The researchers emphasise that women desire anticipatory guidance before testing and that healthcare providers need to provide factual information; information needs to be continually provided in a supportive and caring manner that encourages the exchange of questions and information. Healthcare providers need to be aware that their approach in framing the information ultimately influences adjustment to the diagnosis and satisfaction with management decisions. Management by a genetics professional, specifically trained to work with this population, may assure that this population receives the specific unique care their diagnosis demands.7 It takes time to integrate that an individual has a substantially increased risk for cancer.3 4 The needs of this group are different from those actually diagnosed with cancer. There are limited support resources available to this population, and many healthcare providers have had little experience managing such an individual. The researchers also emphasise that the need for this support is ongoing and that it might need to come from outside of the family network. This support may need to come in from healthcare providers such as genetics professionals and in the form of some type of peer support. As this study suggests, more research is needed to determine the best means to meet the needs of this ever-growing population. Few instruments are available to specifically assess the psychosocial needs of this population.8 Future research should examine and compare the experiences of those who receive pretest counselling and care from a genetics professional with those who do not have pretest counselling or care. Of importance, the researchers also recommend that more research be done with those individuals whose test results show a variant of indeterminate significance. The clinical meaning of this variant is often unknown; little is known about how families respond to the information and manage the uncertainty associated with the result. Finally, the experience of men with a BRCA mutation is probably different than the experience of women. The researchers correctly note that more research is needed with this special population as well.