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Keywords:

  • health-care team;
  • hereditary breast and ovarian cancer syndrome;
  • personal genetic information;
  • personalized medicine;
  • risk management

Abstract

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

Personalized medicine, the tailoring of prevention and treatment, is the future of routine clinical practice. This approach has started to appear in genetic testing for predisposition to hereditary breast and ovarian cancer (HBOC). We explored how breast-care providers perceived HBOC risk management, using grounded theory. This study found that the frontline healthcare providers perceived HBOC risk management as still being neglected in breast cancer care. Emerging challenges included treatment priority, hesitancy to deal with sensitive issues, easily missed risks, genetic data not being shared among multidisciplinary professionals, and patients being lost to follow-up. Oncology nurses are ideally placed to facilitate communication and utilization of genetic information among multidisciplinary professionals. Specialized outpatient clinics need to be established to follow up individuals at high risk. There is a need to create a system to meet the future demands of personalized medicine in nursing practice.


Introduction

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

The next generation of care, particularly in cancer, is personalized medicine. The ultimate goal of personalized medicine is to identify individuals at risk for a disease and to tailor prevention strategies including diet, exercise, pharmacological management and frequent screening, as well as treatment based on each patient's genetic information.[1] This paradigm shift from the traditional ‘one-size-fits-all’ therapy concept to personalized medicine is having an effect on current health-care systems. Genetics is no longer a specialist field,[2] and it influences nursing practice.[3] All health-care disciplines need to be prepared for the integration of genetics into routine care.[4]

This personalized approach has already started in certain areas, such as genetic testing for predisposition to common and uncommon diseases and pharmacogenomic testing for response to a given therapy.[5] The most common such test is for the BRCA1 and BRCA2 mutation genes, which indicate a predisposition to hereditary breast and ovarian cancer (HBOC); this test has been available since 1996.[6] There are several options to manage cancer risks, including surveillance, prophylactic surgery and chemoprevention.[7-9]

Despite a small number of mutation-positive patients in Japan, genetic testing for HBOC is increasingly performed.[10] Genetic testing has the potential to reduce cancer morbidity and mortality through targeted surveillance and management.[6, 11] Health-care providers need to respond to emerging demands for HBOC risk management by guiding recommendations for screening in consideration of psychological, social and ethical effects, helping the individual to understand the results of genetic testing and providing preventive care or early management of cancer based on individual values and preference.[5, 12] These efforts prevent, detect or manage cancer in its early stages, leading to better survival.

The need of HBOC risk management reflects concern over whether health-care systems are keeping pace with the speed of the changing demands derived from genetic testing. In general, there is a decade's delay in adaptation of new technologies to clinical practice. An underutilization of genetic testing and counselling services has been reported,[8] and the integration of genetic testing into clinical practice is underresearched.[2] Little is known about how health-care providers perceive cancer risk management based on genetic information.

In this study, we aimed to explore the recognition, implementation, and challenges of HBOC risk assessment and management from the perspective of breast-care providers and to explore the readiness for personalized cancer risk management at the level of clinical practice.

Methods

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

Design

As organizational culture is created through interactions of individuals, symbolic interactionism proves a useful framework for analysing organizational culture because it focuses on individuals in social interactions.[13] In the present study, we employed grounded theory[14] using symbolic interactionism as a theoretical basis and conducted a focus group interview to understand the reality in personalized cancer risk management from the perspectives of health-care providers.

Recruitment

Multidisciplinary breast team members who were experienced in providing treatment and care to HBOC patients and who had attended meetings at breast centers of two institutions (one general hospital and one university hospital) in Japan were invited to participate in this study. A letter of participation was given to those who agreed to participate in the study, and a signed consent form was returned by hand or fax to the investigator.

Participants

Of the 20 health-care providers invited to participate, 17 (85%) agreed to be interviewed. One physician and two pharmacologists declined because of time constraints. Fifteen participants attended the first focus group interview. In keeping with grounded theory, a further theoretical sample of six participants was interviewed with aims to expand on existing data and to test the integrity and credibility of the developing analysis. We performed three focus group interviews with a total of 17 participants comprising seven breast specialists (oncologists/surgeons), five staff physicians, four nurses and one genetic counsellor. Of the 17 participants, four (three breast specialists and one nurse) were reinterviewed. The mean age of participants was 39.6 years.

Data collection

The study took place between October 2009 and December 2011. HK, one of the nurse researchers, took on the role of facilitator and conducted semistructured focus group interviews using an interview guide (Table 1). Questions addressed broad areas including the recognition, implementation and challenges of genetic testing, counselling and risk management. The duration of the focus groups ranged from 60 to 70 min. All interviews were audiotaped and transcribed verbatim. The facilitator recorded field notes from each interview.

Table 1. Interview guide
1. How do health-care providers understand genetic testing and HBOC risk management, and provide treatment and care to individuals at risk based on genetic information?
2. What are the challenges in treatment and nursing for individuals at risk?
3. How does the system work in implementation, record keeping and data management of genetic testing and genetic counselling?
4. How are individuals at risk followed up based on genetic information/diagnosis in different treatment policies?
5. What are contextual factors in acceptance of and response to genetic testing/diagnosis and treatment/follow-up based on genetic information? How do these factors influence the individual and providers?

Data analysis

Constant comparison analysis was used to interpret the data. Open coding was achieved by deconstructing each interview sentence by sentence to generate the initial concepts. Data collection and analyses were interactive around the exploration of emergent categories. The concepts identified were reintegrated into categories. KY, one of the nurse researchers, performed all analyses. To assess the rigour of the study, KY discussed with HK the interpretation and modifiability of data and the theoretical saturation.

Ethical considerations

The study was approved by the Ethics Committee of St. Luke's College of Nursing prior to initiating the study (No. 09-039). All participants were informed of the voluntary nature of the study and their right to decline to participate. Written informed consent for study participation was obtained accordingly.

Results

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

The analysis presented a core finding that HBOC risk management is still neglected in breast cancer care. It comprised five challenges, supported by extracts from interviews drawn from the data set.

Core finding: HBOC risk management is still neglected in breast cancer care

Despite the recognition of the benefits of genetic testing, breast-care providers perceived HBOC risk management as still being neglected in breast cancer care. Although genetic testing can provide critical clues to cancer prevention and control, such preventive or early management opportunities might be missed under the current system. The following challenges were identified.

Breast cancer treatment as the first priority

Although health-care providers perceived the importance of HBOC risk management, they concentrated on breast cancer treatment as the first priority because of limited available time and resources. Systemic barriers also emerged to the delivery of comprehensive personalized cancer risk management, and the participants perceived the need of a new system for individuals at risk for HBOC. Under the current health-care system in Japan, genetic counselling and testing for individuals with HBOC risk are conducted in genetics departments, but after disclosure of the results of genetic testing, risk management is conducted at the breast center. Although BRCA1 or BRCA2 mutation carriers and their families should be regularly screened for cancer prevention, health-care providers at breast centers are too busy treating the disease, and there is little time left for HBOC risk management.

What we can do is use limited available time effectively (Participant C, breast specialist).

For us, treatment of breast cancer is the first priority. Even though we know that follow-up of individuals at high risk is important, it is a lower priority because of limited resources (Participant B, breast specialist).

We should have a specialized outpatient clinic for mutation-positive patients separate from the [routine breast cancer] follow-up system and take the patient's family history every time she visits. For example, if the patient's daughter reaches a certain age, we should provide her [genetic testing-based] advice at an outpatient clinic, for a while, at least if she is mutation-positive. But deciding who, where, when and how often is very difficult (Participant C, breast specialist).

Hesitancy to deal with sensitive issues

Owing to the complexity of HBOC genetic information, health-care providers are hesitant to deal with sensitive issues, and might not want the additional task of providing gene-related advice.

If we find a mutation in one of our patients, we want her relatives to take the test as soon as possible. But it is a very sensitive issue because each family's situation is different (Participant R, genetic counselor).

Some patients do not want their families to know about their conditions. It is not easy to give the family members a telephone call (Participant F, breast specialist).

We should not put pressure on patients to undergo genetic testing. (Participant B, breast specialist).

Also, breast-care providers perceived difficulties in telling patients the diagnosis of breast cancer and warning about inherited disease predisposition genes at the same time.

[When I tell a patient the diagnosis of breast cancer] Because it [diagnosis of breast cancer] is a very serious issue, I may feel that it's better to tell her about it [genetic testing] after she has calmed down (Participant B, breast specialist).

Easily missed risks

Health-care providers perceived that mutation-positive patients would be easily missed in busy clinical practice.

Because physicians are too busy, some physicians may not have time to talk about it [HBOC] to the patient (Participant C, breast specialist).

We are preoccupied with day-to-day clinical demands (Participant C, breast specialist).

We don't know when mutation-positive patients will next come to the clinic (Participant N, nurse).

We can provide a genetic counselling service to individuals at risk, but when they return to routine [breast cancer] care, they become one of many patients (Participant O, nurse).

Genetic data not being shared among multidisciplinary professionals

Owing to strict management of personal genetic information in terms of confidentiality, important results of genetic tests are often not shared among multidisciplinary professionals. Such information is limited to only a few professionals and is not conveyed to laboratory or health-care providers in other departments such as gynaecology; thus, the patient is seen as a cancer patient without a hereditary predisposition.

It is up to the patient to decide whether to inform her relatives of the results of the genetic test. (Participant B, breast specialist).

If the result of the genetic test is not stated in the patient's medical record, that patient is seen as an ordinary cancer patient (Participant A, breast specialist).

If genetic information is included in a patient's electronic medical record, we are concerned over potential information leakage (Participant B, breast specialist).

Careful handling of genetic information is embedded in our practice (Participant C, breast specialist).

Patients being lost to follow-up

Appropriate follow-up of mutation-positive patients requires not only an improvement in breast cancer care or patient self-management but also a systematic change in which all relevant professionals should be involved in the follow-up.

We do not have any MRI screening program, and establishing such a system will be the first step. For screening for ovarian cancer, we need to involve professionals in the department of gynaecology. We have to build it from scratch (Participant O, nurse).

We provide genetic testing to our patients, but we are not following them up. (Participant C, breast specialist).

We don't know whether we should follow up patients by telephone or not (Participant D, breast specialist).

We don't know how to follow up those who do not undergo genetic testing (Participant C, breast specialist).

Those who refuse to undergo genetic testing never call back (Participant O, nurse).

Discussion

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

The findings revealed that breast-care providers' readiness for personalized cancer risk management was less than optimal. They perceived breast cancer care as being still behind the curve on HBOC risk management. They were hesitant to get involved in sensitive genetic issues because of their complex nature. They were concerned that risks would be easily missed in a busy clinical practice.

We identified the challenges currently faced by breast-care providers seeking to manage individuals at risk of HBOC. Barriers identified in previous physicians' studies include a lack of clinical guidelines, limited knowledge, lack of confidence and lack of evidence-based clinical information.[5, 15, 16] In the present study, the clinical thinking of health-care providers, ambiguity over responsibilities in multidisciplinary care, and fragmented communication systems affected the risk management.

Clinical thinking, referring to the process of decision-making in clinical practice, is based on knowledge and experience. The breast team felt comfortable about their breast care, but they were concerned about their knowledge and experience in terms of HBOC. Faced with limited resources and multiple problems, health-care providers often adopt additive-sequential decision making, which deals with problems in order of priority.[17] All respondents mentioned limited available time and resources. Consequently, they concentrated on breast cancer treatment, and HBOC risk management was put in second place.

Their clinical thinking process often resulted in their hesitation to get involved in sensitive issues. HBOC genetic information is relevant to both those who undergo genetic testing and their relatives.[18] As information obtained by women through genetic testing could have a significant impact on their relatives, health-care providers need to bear in mind the scope of family care.[19]

The breast-care providers were also juggling the dual role of telling their patients their breast cancer diagnoses and informing them about genetic testing at the same time. As the diagnosis of breast cancer is a life crisis event for the patient, health-care providers wondered whether additional unwelcome news about genetic testing would harm the patient. In addition, there are no evidence-based standard management procedures with long-term clinical data.[7] This ambivalent view of health-care providers disrupts the timing of communication with the patient.

The recent model of multidisciplinary care makes it difficult even to integrate genetic data into information sharing, although multidisciplinary efforts would lead to successful cancer risk management.[20] In Japan, genetic data given in paper-based medical records at genetics departments are kept in locked cabinets. Personal information is protected, but this means that it is not shared among multiple disciplines. Some genetic information is shared through verbal communication between professionals in breast-care and gynaecology or included in electronic medical records at certain institutions. However, unlike in the United States, the law is not prepared in Japan for electronic data interchange, and concerns about privacy and genetic discrimination remain a deterrent for health-care providers. Even though the results of genetic testing are given to relevant health-care providers, some of them do not understand the value of genetic information because of insufficient knowledge of genetics.

Also, the breast-care providers mentioned that multidisciplinary care obscured where responsibility for HBOC risk management resides. They were preoccupied by daily practice, and responsibility for HBOC risk management was not assigned, so that individuals at risk were likely to be missed in the routine practice in these fragmented communication systems. These barriers need to be identified as common concerns among multidisciplinary care providers, and the communication process should be improved. Multidisciplinary care represents best practice through the enhancement of communication.

The cost of genetic testing for the BRCA1/BRCA2 mutation genes is expensive. It ranges from ¥250 000–350 000 (about US$2500–3500; US$1=¥100), depending on the institution. There is no insurance coverage for such testing in Japan; thus, individuals pay for it out of pocket. The results of the tests help health-care providers make more informed patient-management decisions and should be used effectively. Not only mutation-positive women but also mutation-negative women might need additional help.[21]

In terms of nursing implications, these findings provide insights that can help nurses manage individuals at risk. As oncology nurses are positioned as a communication bridge between cancer patients and multidisciplinary teams,[22] they are ideally placed to facilitate communication among members of multidisciplinary care teams, utilize genetic information in electronic medical records and hold multidisciplinary meetings on HBOC risk management.

Appropriate clinical thinking comes from confidence in decision-making based on solid knowledge, and therefore, training is essential. Education alone, however, does not necessarily translate into effective adoption of innovative practices, and an organizational culture in which proactively coordinating genetic information leads to cancer prevention and early management needs to be created within the health-care system.[23] It is not genetics providers but oncologists and oncology nurses who see their patients regularly for screening or follow-up.[24] To ensure the follow-up of individuals at high risk and their families, specialized outpatient clinics need to be established for multidisciplinary collaboration and partnership, or the current breast screening services could be used with a more personalized approach.

Limitations

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

The sample in this study might not accurately reflect the full spectrum of characteristics in the target population because we collected data from breast team members who were available for the focus group interviews at two institutions, and therefore, generalizability might be limited. Theoretical sampling allowed for refining of the categories of challenge and added new richness to their description; however, the limitations of the sampling might influence deeper exploration and generation of an emerging theory. Some situations specific to the Japanese health-care system could have hindered some aspects of the focus group conversation. Owing to the nature of focus group interviews, the results might have been influenced by group dynamics. The advantage of this approach is the acquisition of constructive data, whereas the disadvantage is the influence of the opinions of others.

Conclusion

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

In this study, we focused on HBOC risk management based on the BRCA1/BRCA2 tests, which have more than a decade of history. Despite the fact that these are the most common genetic tests, the breast-care providers perceived HBOC risk management as still being neglected in breast cancer care. The health-care system is failing to keep pace with the speed of development, and health-care providers are not ready for personalized cancer risk management in everyday practice. There is much to be done in nursing practice. Additional research is clearly needed to better understand the barriers to adopting personalized cancer risk management in practice, in order to ensure that the benefits from progress in genetics are passed on to patients.

Acknowledgements

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References

This study was funded by the Ministry of Education, Sports, and Science Technology of Japan, Challenging Exploratory Research (No. 21659512).

References

  1. Top of page
  2. Abstract
  3. Introduction
  4. Methods
  5. Results
  6. Discussion
  7. Limitations
  8. Conclusion
  9. Acknowledgements
  10. References
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