Treatment-focused Genetic Testing Research Articles

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

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.

Moving into the mainstream: healthcare professionals\u2019 views of implementing treatment focussed genetic testing in breast cancer care

A proportion of breast cancers are attributable to BRCA1 or BRCA2 mutations. Technological advances has meant that mutation testing in newly diagnosed cancer patients can be used to inform treatment plans. Although oncologists increasingly deliver treatment-focused genetic testing (TFGT) as part of mainstream ovarian cancer care, we know little about non-genetics specialists’ views about offering genetic testing to newly diagnosed breast cancer patients. This study sought to determine genetics and non-genetics specialists’ views of a proposal to mainstream BRCA1 and 2 testing in newly diagnosed breast cancer patients. Qualitative interview study. Nineteen healthcare professionals currently responsible for offering TFGT in a standard (triage + referral) pathway (breast surgeons + clinical genetics team) and oncologists preparing to offer TFGT to breast cancer patients in a mainstreamed pathway participated in in-depth interviews. Genetics and non-genetics professionals’ perceptions of mainstreaming are influenced by their views of: their clinical roles and responsibilities, the impact of TFGT on their workload and the patient pathway and the perceived relevance of genetic testing for patient care in the short-term. Perceived barriers to mainstreaming may be overcome by: more effective communication between specialities, clearer guidelines/patient pathways and the recruitment of mainstreaming champions.

Global Disparities in Breast Cancer Genetics Testing, Counselling and Management.

Hereditary breast cancers, mainly due to BRCA1 and BRCA2 mutations, account for only 5-10% of this disease. The threshold for genetic testing is a 10% likelihood of detecting a mutation, as determined by validated models such as BOADICEA and Manchester Scoring System. A 90-95% reduction in breast cancer risk can be achieved with bilateral risk-reducing mastectomy in unaffected BRCA mutation carriers. In patients with BRCA-associated breast cancer, there is a 40% risk of contralateral breast cancer and hence risk-reducing contralateral mastectomy is recommended, which can be performed simultaneously with surgery for unilateral breast cancer. Other options for risk management include surveillance by mammogram and breast magnetic resonance imaging, and chemoprevention with hormonal agents. With the advent of next-generation sequencing and development of multigene panel testing, the cost and time taken for genetic testing have reduced, making it possible for treatment-focused genetic testing. There are also drugs such as the PARP inhibitors that specifically target the BRCA mutation. Risk management multidisciplinary clinics are designed to quantify risk, and offer advice on preventative strategies. However, such services are only possible in high-income settings. In low-resource settings, the prohibitive cost of testing and the lack of genetic counsellors are major barriers to setting up a breast cancer genetics service. Family history is often not well documented because of the stigma associated with cancer. Breast cancer genetics services remain an unmet need in low- and middle-income countries, where the priority is to optimise access to quality treatment.

Patients\u2019 Views of Treatment-Focused Genetic Testing (TFGT): Some Lessons for the Mainstreaming of BRCA1 and BRCA2 Testing

This paper explores patients’ views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients’ views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways. Patients were amenable to the incorporation of TFGT at an early stage in their cancer care irrespective of (any) prior anticipation of having a genetic test or family history. While patients were glad to have been offered TFGT as part of their care, some questioned the logic of the test’s timing in relation to their cancer treatment. Crucially, patients appeared unable to disentangle the treatment role of TFGT from its preventative function for self and other family members, suggesting that some may undergo TFGT to obtain information for others rather than for self.

Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history.

In patients with early breast cancer, personal and tumour characteristics other than family history are increasingly used to prompt genetic testing to guide women's cancer management (treatment-focused genetic testing, 'TFGT'). Women without a known strong family history of breast and/or ovarian may be more vulnerable to psychological sequelae arising from TFGT. We compared the impact of TFGT in women with (FH+) and without (FH-) a strong family history on psychological adjustment and surgical decisions. Women aged <50 years with high-risk features were offered TFGT before definitive breast cancer surgery and completed self-report questionnaires at four time points over 12 months. All 128 women opted for TFGT. TFGT identified 18 carriers of a disease-causing variant (50.0% FH+) and 110 non-carriers (59.1% FH+). There were no differences based on family history in bilateral mastectomy (BM) uptake, p = .190, or uptake of risk-reducing bilateral salpingo-oophorectomy (RRBSO), p = .093. FH- women had lower decreases in anxiety a year after diagnosis, p = .011, and regret regarding their decision whether to undergo BM, p = .022, or RRBSO, p = .016 than FH + women. FH- carriers reported significantly higher regret regarding their TFGT choice (p = .024) and test-related distress (p = .012) than FH + carriers, but this regret/distress could not be attributed to a concern regarding a possible worse prognosis. These findings indicate that FH- women may require additional counselling to facilitate informed decisions. Carriers without a family history may require additional follow-up counselling to facilitate psychological adjustment to their positive variant results, extra support in making surgical decisions, and counselling about how best to communicate results to family members.

Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial.

Increasingly, women newly diagnosed with breast cancer are being offered treatment-focused genetic testing (TFGT). As the demand for TFGT increases, streamlined methods of genetic education are needed. In this noninferiority trial, women aged <50 years with either a strong family history (FH+) or other features suggestive of a germ-line mutation (FH-) were randomized before definitive breast cancer surgery to receive TFGT education either as brief written materials (intervention group (IG)) or during a genetic counseling session at a familial cancer clinic (usual-care group (UCG)). Women completed self-report questionnaires at four time points over 12 months. A total of 135 women were included in the analysis, all of whom opted for TFGT. Decisional conflict about TFGT choice (primary outcome) was not inferior in the IG compared with the UCG (noninferiority margin of -10; mean difference = 2.45; 95% confidence interval -2.87-7.76; P = 0.36). Costs per woman counseled in the IG were significantly lower (AUD$89) compared with the UCG (AUD$173; t(115) = 6.02; P < 0.001). A streamlined model of educating women newly diagnosed with breast cancer about TFGT seems to be a cost-effective way of delivering education while ensuring that women feel informed and supported in their decision making, thus freeing resources for other women to access TFGT.Genet Med 19 4, 448-456.

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.

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.

Treatment focused genetic testing (TFGT) for ovarian cancer (OC) patients: The Catalan Institute of Oncology (ICO) network experience.

e17071Background: Since the approval of the PARP inhibitor olaparib, the TFGT indications for OC have dramatically increased. Furthermore, several guidelines include genetic testing for all non-muc...

AB147. Treatment-focused genetic testing (TFGT)—is it too soon for Malaysia?

Background and objective The knowledge of a woman’s BRCA mutation status around the time of breast cancer diagnosis can be used to guide surgical treatment and preventative options for women. This concept, known as treatment-focused genetic testing (TFGT), has been previously reported to be acceptable in a population of Australian women. However, little is known of the acceptability of TFGT to women with breast cancer in Malaysia. The fact that Malaysia is a multi-cultural and religious country poses challenges for the implementation of BRCA genetic testing into clinical practice. Despite this, the benefits in terms of risk management options and the potential reduction in incidence and mortality of breast cancer that may follow the introduction of TFGT in Malaysia are considerable.

Health professionals' evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer.

Increasingly, women are offered genetic testing shortly after diagnosis of breast cancer to facilitate decision-making about treatment, often referred to as 'treatment-focused genetic testing' (TFGT). As understanding the attitudes of health professionals is likely to inform its integration into clinical care we surveyed professionals who participated in our TFGT randomized control study. Thirty-six completed surveys were received (response rate 59%), 15 (42%) health professionals classified as genetic and 21 (58%) as non-genetic. Mainly positive experiences with participating in the TFGT trial were reported. The high cost of testing and who could best deliver information about TGFT to the patient were raised as key constraints to implementation of TFGT in usual care. More non-genetic than genetic health professionals (44 vs 8%) preferred that the surgeon provide the information for decision-making about TFGT. While costs of TFGT itself and the time and effort of staff involved were perceived barriers, as testing costs become lower, it is expected that TFGT will become a routine part of standard clinical care for patients at high genetic risk in the near future.

Abstract P2-18-10: High risk of late in-breast tumour recurrence after BRCA1/2-associated breast cancer

Abstract Background: In the general population, partial mastectomy followed by postoperative radiotherapy (PMRT) reduces the risk of local recurrences of breast cancers to a level comparable to the risk after mastectomy (M). However, for BRCA1/2 mutation carriers, a potentially increased risk of a new primary breast cancer in the ipsilateral breast must be taken into account when recommendations about type of surgery are given. To address this question, we conducted a retrospective study on the risk of in-breast tumor recurrence (IBTR) after PMRT in BRCA1/2 mutation carriers. Methods: Women with invasive breast cancer from families with a pathogenic mutation in BRCA1 or BRCA2 identified at a single institution were included in the study (n = 174). Median age at diagnosis was 43 years and median follow-up was 10.8 years for patients alive at end of follow-up. Patients who were treated with PMRT (n = 45) were compared with patients who had M as primary surgery (n = 118). Endpoints were local recurrence as first failure (LR [IBTR or thoracic wall recurrence]), overall survival (OS), breast cancer-specific survuval (BCSS) and distant disease-free survival (DDFS). LR, OS, BCSS and DDFS were estimated using the Kaplan-Meier method and compared by the log-rank test. For calculation of hazard ratios and for multivariable analysis, the Cox proportional hazards model was used. Results: In univariate analysis, no difference in OS, BCSS or DDFS was seen between the PMRT and M groups (HR 0.9 [95% CI 0.5-1.4], HR 0.9 [CI 0.5-1.7] and HR 0.8 [CI 0.5-1.5], respectively). In multivariable analysis, adjusting for tumor stage, age and use of adjuvant chemotherapy, the hazard ratios were lower (HR 0.8 [95% CI 0.4-1.3], HR 0.6 [CI 0.3-1.3] and HR 0.6 [CI 0.3-1.1], respectively), but remained inconclusive. Compared to M, PMRT was associated with an increased risk for LR in univariate analysis (HR 4.0 [CI 1.6-9.8]). In the M group, all local recurrences were seen in the first 5 years. As opposed to this, in the PMRT group the rate of IBTR was rather constant over 15 years of follow-up. The cumulative risk for IBTR in the PMRT group was 19%, 32% and 43% after 5, 10 and 15 years, respectively. Conclusion: BRCA1/2 mutation carriers treated with PMRT have a high risk for IBTR, many of which are new primary breast cancers. This must be thoroughly discussed with the patient and is an example of how rapid treatment-focused genetic testing already could influence choice of treatment. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P2-18-10.

Oncology health professionals' attitudes toward treatment-focused genetic testing for women newly diagnosed with breast cancer.

This study explored the attitudes of oncology health professionals towards treatment-focused genetic testing (TFGT) for women newly diagnosed with breast cancer. Members of several relevant medical organizations in Australia and New Zealand were invited via email to participate in an online survey. A total of 149 respondents, including 40 surgeons, 46 oncologists and 63 breast care nurses, completed the online questionnaire. The majority of respondents believed that TFGT was useful for patient care (87.3%) and valuable for the treatment and management of breast cancer (90.6%). In multivariable analyses, breast care nurses were significantly more likely to agree that TFGT was useful for patient care and the treatment and management of breast cancer compared with oncologists and surgeons (β = 0.30; 95% CI: 0.01-0.60; p = 0.045). Participants also agreed that TFGT has an impact on treatment decision-making (96.0%), uptake of bilateral mastectomy (98.7%) and uptake of risk-reducing salpingo-oophorectomy (98.0%) in women newly diagnosed with breast cancer. A slight preference towards surgeons (49.7%) as the best health professional to make the initial offer of TFGT was observed and the majority of respondents suggested the best time to offer TFGT was shortly after diagnosis, when the treatment plan is discussed. The findings suggest health professionals have positive attitudes towards TFGT. Future training programs focusing on teamwork models and guidelines specifying health professionals' roles in regards to TFGT and follow-up management may be of benefit.

Communication and Information Needs of Women Diagnosed With Ovarian Cancer Regarding Treatment-Focused Genetic Testing

To identify women's information and communication preferences about treatment-focused genetic testing (TFGT) in the ovarian cancer context. A qualitative interview study. Two familial cancer services and a gynecologic oncology clinic at a major teaching hospital in Australia. 22 women diagnosed with ovarian cancer who had either advanced disease and had previously undergone TFGT (n = 12) or had been diagnosed in the previous 6-20 weeks with ovarian cancer and had not undergone TFGT (n = 10). Participants were interviewed individually about actual and hypothetical views of TFGT. The interviews were transcribed and organized into themes using qualitative analysis software. Most women wanted to be informed about TFGT prior to their surgery for ovarian cancer. The majority preferred to receive the information verbally; slightly more women preferred their medical oncologist to deliver the information compared to a genetic specialist or oncology nurse. Women preferred the focus of pretest information to be on them and their treatment. Women diagnosed with ovarian cancer want information about genetic testing early with focus placed on the potential benefits of genetic testing on treatment. The findings of this study provide much-needed guidance to oncology nurses and other oncology healthcare professionals about when, what, and how information about TFGT should be delivered to patients diagnosed with ovarian cancer. Supportive patient education materials now need to be developed to assist these women in making informed decisions about genetic testing. Knowing that women do want TFGT, how they want it presented and by whom, and the content and level of detail that women want means that TFGT can now be presented as an option to women newly diagnosed with ovarian cancer, which may influence firstline treatment. The findings also provide the knowledge required to prepare education tools to assist oncology nurses involved in frontline care.

How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

BackgroundGermline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service.Design/methodsIn this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals’ attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention.DiscussionThis trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed.Trial registrationThe study is registered with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12610000502033)

Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer

Women with breast cancer, who are found to be BRCA1/2 mutation carriers, have a high risk of ovarian cancer and metachronous breast cancer. Treatment-focused genetic testing (TFGT), offered around the time of diagnosis, allows genetic test results to inform surgical treatment decisions. However, concern has been raised that offering TFGT at this time may overly increase psychological burden. This study aimed to qualitatively explore women's attitudes and experiences of TFGT. Women who had been diagnosed with breast cancer at age 50 years or less undertook a semi-structured telephone interview (n = 26). The sample included women who had been offered TFGT, based on family history and/or other risk criteria (n = 14), and women who had been diagnosed within the past 6-12 months and had not been offered TFGT (n = 12). Interviews explored women's attitudes towards TFGT, perceived benefits and disadvantages, implications of TFGT and impact on surgical decision making. Interviews were transcribed verbatim and thematically analysed. Women expressed positive attitudes towards TFGT and felt it was highly relevant to their surgical decision making. They did not feel that an offer of TFGT shortly after, or at the time of diagnosis, added undue psychological burden. The majority of women interviewed felt that TFGT should be incorporated into standard clinical care. TFGT is viewed favourably by women newly diagnosed with breast cancer. Future randomized controlled trials are needed to examine the long-term impact of TFGT. We conclude that an offer of TFGT is not perceived as 'too much, too soon' by relevant patients.

Getting to the Point: What Women Newly Diagnosed With Breast Cancer Want to Know About Treatment-Focused Genetic Testing

To identify young women's information preferences regarding treatment-focused genetic testing (TFGT) and to develop and evaluate a novel educational resource. Qualitative interview study and pilot testing of a novel resource. Two familial cancer services and one outpatient oncology clinic in Sydney and Melbourne, Australia. 26 women with breast cancer aged 50 years and younger who either previously had TFGT (n = 14) or had a diagnosis of breast cancer within the previous 6-12 months. Participants were asked about their views of TFGT in semistructured interviews. A brief pamphlet on TFGT then was developed and pilot tested with 17 of the 26 women. Women's attitudes and preferences with regard to timing, mode of delivery, and amount and format of information regarding TFGT were explored. Most women wanted to be informed about TFGT at or around the time of their cancer diagnosis via a face-to-face consultation. No clear preference existed for which type of healthcare professional should provide information on TFGT. Brief written information about TFGT was viewed as important supporting material. The educational resource developed was well received. The potential for more widespread TFGT in the future indicates a need for patient educational materials that enable women to make informed choices about TFGT. This pilot study has provided timely initial evidence on the efficacy of a brief written resource in preparing women for decision making about TFGT. The resource developed in this study will assist oncology nurses to make important genetic risk information available to women newly diagnosed with breast cancer at a stressful time.

There is no decision to make: Experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer

ObjectiveThere is growing evidence that the BRCA mutation status of women newly diagnosed with ovarian cancer may be used to make treatment recommendations in the future. This qualitative study aimed to assess women's attitudes and experiences toward treatment-focused genetic testing (TFGT). MethodsWomen (N=22) with ovarian cancer who had either (i) advanced disease and had previously had TFGT (n=12) or (ii) had a recent ovarian cancer diagnosis and were asked about their hypothetical views of TFGT (n=10), were interviewed in-depth. ResultsThis study demonstrates that patients diagnosed with ovarian cancer found the concept of TFGT acceptable with the primary motivation for genetic testing being to increase their treatment options. Women reported that there was no decision to make about TFGT, and the advantages of TFGT were perceived to outweigh the disadvantages. Many women described elements of resilience and active coping, in the context of hypothetical and actual TFGT. ConclusionsResilience and active coping strategies are important factors that warrant investigation as potential moderators of psychological distress in future prospective studies exploring the optimal way of offering BRCA genetic testing to women newly diagnosed with ovarian cancer, and to assess the impact of TFGT upon patients' survival, psychological distress, and quality of life.

Moving Toward Personalized Medicine: Treatment-Focused Genetic Testing of Women Newly Diagnosed With Ovarian Cancer

The presence of a germline BRCA mutation defines a genotype-specific group of women whose invasive ovarian cancer is associated with an increasingly well-defined prognostic and chemosensitivity biological profile. To determine the criteria that may be used to select patients for BRCA treatment-focused genetic testing, we performed a systemic literature search of studies that assessed BRCA1 and BRCA2 mutation frequency in women with ovarian cancer unselected for family history. The results are discussed with regard to the added clinical value gained by identifying a germline BRCA mutation at the time of the ovarian cancer diagnosis. BRCA-related studies were identified in the CD-ROM databases PubMed (including MEDLINE), PsychINFO, and CINAHL and included in the review if they met the following criteria: they (a) assessed mutation frequency in women with ovarian cancer who were unselected for family history and ethnicity, (b) were published in a peer-review journal, (c) between January 1997 and October 2009, and (d) in the English language. Studies investigating the prevalence of BRCA1 or BRCA2 mutations in ovarian cancer patients unselected for family history or ethnicity have found a pathological BRCA mutation rate of approximately 3% to 17%. Without a significant family history, specific features that may be used to target treatment-focused BRCA testing in the ovarian cancer setting include young age at onset (G50 years), high-grade serous tumor histology, and specific ethnicity associated with known BRCA founder mutations. We believe that given the growing appreciation of the prognostic significance of BRCA mutations and the differential chemosensitivity shown by these tumors, as well as the potential of novel agents such as poly(ADP-ribose) polymerase inhibitors, the identification of a germline BRCA mutation concurrent with a new diagnosis of ovarian cancer will significantly impact on tailoring personalized ovarian management in the future.

Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda

Many women newly diagnosed with breast cancer and with a strong family history of breast cancer are referred to a family cancer service for genetic counselling and for consideration of genetic testing for germline mutations in cancer predisposition genes following completion of their cancer treatment. However, there is growing evidence that mutation status may influence treatment recommendations, and that there may be benefits in having 'treatment-focused genetic counselling and testing' available shortly after cancer diagnosis. This article reviews the literature that could inform the development of treatment-focused genetic counselling and testing, including: the rationale for genetic testing to aid with treatment decisions; the potential benefits of using mutation or risk status to tailor management; the criteria that may be used to identify patients most likely to carry germline mutations; and the evidence regarding women's decision-making regarding treatment-focused genetic counselling and testing and the associated psychological impact.