Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Carrieri D1, Howard HC2, Benjamin C3,4, Clarke AJ5, Dheensa S6, Doheny S5, Hawkins N7, Halbersma-Konings TF8, Jackson L9, Kayserili H10, Kelly SE1, Lucassen AM6,11, Mendes Á12, Rial-Sebbag E13, Stefánsdóttir V14, Turnpenny PD15, van El CG16, van Langen IM8, Cornel MC16, Forzano F17; European Society of Human Genetics.

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Abstract

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.