Why do we need to think about discussing genetics with people who have palliative care needs, and their families?

A blog post written by Stephanie White

BIOGRAPHY: Stephanie White is a PhD candidate at the University of Technology Sydney. She is a genetic counsellor and registered nurse, working at the Department of Clinical Genetics at Royal North Shore Hospital. Her PhD aims to develop an evidence base surrounding the integration of genetics and genomics into the care of people with palliative care needs, and their families.

BLOG: Identifying the genetic contribution of disease among palliative patients has utility for family members with the possibility to improve health and save lives if preventative measures are indicated and actioned. However, up to a quarter of patients with life-limiting conditions, and their relatives, are missing the opportunity for genetic counselling or testing prior to entering the terminal phase of their disease. [1, 2] While genetic testing in the end-of-life context has little clinical benefit for the dying person, the genetic insights gained could provide relatives with crucial information to help them make health, reproductive, social and financial decisions. [3, 4] If the need for genetic testing is not identified earlier in the individual’s disease, palliative care becomes the final opportunity to discuss genetics before the opportunity is lost.

Mainstream integration of genetics and genomics into routine medical care has raised a number of barriers relevant to health professionals’ capability, opportunity and motivation to integrate genetics into their practice. [5] Palliative care health professionals have cited concerns about causing psychological harm to patients and relatives, feeling their level of genetics knowledge is inadequate and the belief genetics should have been addressed earlier in the patient’s illness. [6] Despite this, palliative care health professionals report being involved in discussions about genetics with patients and relatives, although many of these conversations appear to be instigated by the patient or their family members. [7] It is therefore imperative we generate the knowledge and resources so palliative care health professionals can confidently and proactively identify patients and families who might benefit from a genetics discussion, rather than relying on and reacting to patients and family members queries. 

Developing support for palliative care health professionals to integrate genetics into practice should be reflected in policy statements that highlight the importance of identifying and supporting patients and families to access their genetic information. However, emerging evidence suggests integration of genetics and genomics into palliative care appears to be missing from the policy agenda. [8] Without strong leadership from the genetics and genomics field, the benefits of genetic information in the palliative setting are unlikely to filter down to the bedside. This policy gap is likely to be underpinned by a dearth of research in Australia regarding the scope of this issue, identification of barriers and proposed solutions. 

To address this gap, The GIFT project – Genetic Information for Families of the Terminally Ill – is underway. The project uses a mixed-methods design to identify and describe the barriers and facilitators to integrating genetics into palliative care, and the views and experiences of palliative care and genetics health professionals in discussing genetics with people receiving palliative care and their families. Ultimately, the project aims to generate evidence to support the design of an intervention for palliative care health professionals to feel confident engaging in discussions about genetics with people who have palliative care needs.

If you are a palliative care nurse or doctor and you would like to share your views and experiences of addressing genetics in palliative care, follow this link to complete a 10-20 minute, anonymous, online questionnaire - https://redcap.link/jo2gxpz4.

This study has ethical approval from the University of Technology Sydney Human Research Ethics Committee (ETH18-2408)

Stephanie White
PhD candidate
University of Technology Sydney
 

REFERENCES

1.         Cohen, P.A., et al., Impact of clinical genetics attendance at a gynecologic oncology tumor board on referrals for genetic counseling and BRCA mutation testing. International Journal of Gynecologic Cancer, 2016. 26(5): p. 892-897.

2.         Lakhani, N.S., et al., Could triaging family history of cancer during palliative care enable earlier genetic counseling intervention? Journal of Palliative Medicine, 2013. 16(11): p. 1350-1355.

3.         Forbes Shepherd, R., et al., "I need to know if I'm going to die young": Adolescent and young adult experiences of genetic testing for Li-Fraumeni syndrome. J Psychosoc Oncol, 2021. 39(1): p. 54-73.

4.         Hampel, H., Genetic counseling and cascade genetic testing in Lynch syndrome. Familial Cancer, 2016. 15(3): p. 423-427.

5.         White, S., C. Jacobs, and J. Phillips, Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care. Genet Med, 2020. 22(7): p. 1149-1155.

6.         White, S., et al., Views and experiences of palliative care clinicians in addressing genetics with individuals and families: A qualitative study. Supportive Care in Cancer, 2022. 30(2): p. 1615-1624.

7.         Cleophat, J.E., et al., Addressing cancer family history at the end of life: How frequent, relevant, and feasible is it? A survey of palliative care providers. Palliative medicine, 2019. 33(7): p. 856-858.

8.         White, S., et al., The integration of genetics and genomics into palliative care is missing from the policy agenda: A systematic scoping review. Manuscript in preparation, 2022.