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Palliative care and genetics: personalized medicine for the patient and family

European Journal of Human Genetics volume 32, pages 8–9 (2024)Cite this article

The Original Article was published on 21 June 2023

In an ideal world, palliative care specialists would encounter cancer and other patients with all their germline genetic testing done and all their families’ questions answered. Unfortunately, that is not the case. From 2012 to 2019, only 6.8% of 1.3 million cancer patients had germline DNA testing done. The testing was highest in men with breast cancer – but only 50% when it should be close to 100%. Of women with ovarian cancer, only 38.6% had testing done; such knowledge is essential for risk-reducing salpingo-oophorectomy that reduces the risk of ovarian cancer by 96% in women with BRCA mutations, and is essential to integrate new drugs like Olaparib into treatment. At National Comprehensive Cancer Network centers 59 of 212 (28%) breast cancer patients went untested despite meeting one or more high-risk criteria [1]. As a geneticist (JNB) and oncologist-palliative care specialist (TJS), we still see people near the end of life with no documentation or knowledge of germline genetic testing. We found that 25% of the charts on which PC was consulted had NO family history recorded [2]. Since palliative care may offer the last chance to collect DNA information for some patients, how can genetics be integrated into palliative care?

White et al. surveyed genetic (G-HCPs) and palliative care professionals (PC-HCPs) in Australia and New Zealand and found that most PC-HCPs were not at all confident about genetics, with 44% professing a lack of genetic knowledge. Over half, 52%, were not confident about discussing DNA banking and 58% did not know their legal responsibilities about sharing genetic information. We know that family history concerns can be an important part of goals of care in significant illness and have meaningful use. Family-centered concerns and care include the question - will this cancer/arrhythmia/stroke kill my children and close relatives, even though it may not be voiced or given a voice. We also know that systems of care coordination, genetic counseling, and referral vary around the world [3]. Effective collaboration and teamwork across disciplines with new information/approaches must deal with competing needs, “fiscal” and workforce realities, and patient/family priorities. This is not new: interested PC and genetic providers have been writing about the integration gap for 20 years [4].

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  1. McKusick-Nathans Dept. of Genetic Medicine, The Johns Hopkins School of Medicine, 600N. Wolfe St., Blalock 1008, Baltimore, MD, 21287, USA

    Joann N. Bodurtha

  2. Department of Oncology and Medicine, The Johns Hopkins School of Medicine, 600 N. Wolfe Street, Blalock 369, Baltimore, MD, 21287-0005, USA

    Thomas J. Smith

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Both authors conceived the commentary, edited it, and take full responsibility for the final version.

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Bodurtha, J.N., Smith, T.J. Palliative care and genetics: personalized medicine for the patient and family. Eur J Hum Genet 32, 8–9 (2024). https://doi.org/10.1038/s41431-023-01449-y

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