Mainstreaming genetics in palliative care: barriers and suggestions for clinical genetic services

Abstract

Palliative healthcare professionals (PHCPs) frequently do not refer their eligible patients for genetic testing. After the death of the affected individual, clinically relevant information for family members is lost. In previous research, PHCPs stated that the end-of-life setting is not appropriate to discuss genetic issues. It is unclear if this has changed due to increasing awareness of genetics in the media and efforts to mainstream genetic testing. Semi-structured interviews of PHCPs were analysed by thematic analysis. Seven PHCPs (four nurses, two consultants, and one clinical psychologist) were interviewed. Participants reported feeling unfamiliar with the role of clinical genetics services, and did not feel confident in addressing genetic issues with their patients. A lack of scientific knowledge and unawareness of existing infrastructure to support their patients were cited. Many stated that palliative patients are interested in exploring a potential hereditary component to their disease, and acknowledged the potential for psychological benefit for their patients and their families. Most stated that addressing genetics fits within their skill set, but expressed concern about issues of consent, logistical difficulties, and ethical dilemmas. These perceptions differ considerably from those reported in existing literature. Importantly, each participant stated that the potential benefits of addressing genetic issues outweighed the potential for harm in most cases. These results suggest a need for clinical genetics staff to develop closer links with their local PHCPs and to provide education. Clinical psychologists may also be a helpful resource to address PHCPs’ concerns.

Appendix A: Interview guide

• Thank the participant for agreeing to participate in the study.

• Review the aims of the study, and offer the participant an opportunity to ask questions regarding any aspects of the study.

• Remind the participant that this is not an audit of their practice, and to feel free to ask questions at any point of the interview.

• Throughout the interview, definitions will be provided at request, or if the participant’s definition of a concept is different to what will be used in this study.

Review of demographic information: Ask participant to state professional title and number of years’ experience

• 1. Understanding of the genetics of cancer

  • To the best of your knowledge, how strongly genetic is cancer?

  • Have you ever treated patients with a family history of cancer?

  • In your opinion, is it important to consider a genetic predisposition to cancer in your patients?

• 2. Taking a family history

  • Have you ever taken a family medical history?

  • What would be the types of questions you asked during this process?

  • In your opinion, is it important to consider the family history of cancer when treating your patients?

  • Would you feel confident in identifying a patient with a significant family history of cancer? In your opinion, what would this constitute?

  • If you identified a patient with a significant family history of cancer, what steps would you take? What information would you share with the patient?

  • Do you have any examples where taking a family history turned out to be significant?

  • How do patients react to taking a family history?

• 3. Genetic testing

  • What is your understanding of genetic testing for genetic predispositions to cancer?

  • To the best of your knowledge, are there genetic susceptibility tests available for your subspecialty?

  • Is genetic testing for a genetic susceptibility to cancer something that you have ever considered or discussed with your patients?

  • As a health care provider, do you think terminally ill patients would benefit from genetic testing for a genetic predisposition to cancer?

  • Do you think the families of terminal patients are interested in testing for a familial link to their cancer? Have you ever been asked about genetic testing by patients or families?

  • Is the terminal care setting an appropriate place to discuss a familial susceptibility to cancer? Why or why not?

• 4. DNA banking

  • What is your understanding of DNA storage?

  • Have you ever discussed or offered DNA storage with your patients?

  • Is your opinion, is DNA storage a good alternative to genetic testing in terminally ill patients? Why or why not?

  • How do you think patients would respond to the offer of DNA storage? How do you think their families would react?

  • At what point do you think addressing DNA storage is most appropriate?

  • In your opinion, whose responsibility is it to initially broach the topic DNA testing or storage? Ex: Physician, nurse, genetics services, patients

  • Is DNA storage something you will consider for your practice in the future? Why or why not?

Definitions

Family history: Oral or written questionnaire exploring the patient’s family’s medical history. Used to assess potential genetic risks in the family. Ideally multigenerational.

Genetic testing: Scientific investigation into the somatic DNA of the patient, or in some cases the DNA of their tumour. In this setting, used to detect high-risk genotypes that would indicate a high-risk of cancer, or a familial cancer syndrome.

DNA banking: Storing of a sample of DNA, commonly blood or more rarely saliva or tissue, for genetic testing at a later date. Allows genetic testing after the death of the patient.