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

European Journal of Human Genetics (2023)Cite this article

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?

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Authors and Affiliations

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

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Correspondence to Joann N. Bodurtha or Thomas J. Smith.

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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 (2023). https://doi.org/10.1038/s41431-023-01449-y

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