Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions
A Chaouch et al, EJHG, January 4, 2024
From the article: "The complexity of WGS, the range of possible incidental findings, the inevitable uncertainties, and the often limited understanding about genomics by patients, their family, and sometimes by mainstream clinicians can make informed consent difficult to achieve. Some have argued that an excess of information can be a deterrent for patients, as it may lead to difficulties in ensuring valid consent and hinder access to potentially valuable investigations and treatments. However, it is important that enough information is provided to bring patients’ and families’ hopes and expectations into a realistic alignment with the likely results of WGS. "
Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.
Danya F Vears et al. Eur J Hum Genet 2023 10
From the abstract: "Rapid genomic testing in critically ill children is becoming the standard of care where there is a high suspicion of an underlying genetic condition and should be provided equitably for all patients in acute care settings. The HGSA encourages an appropriately resourced multidisciplinary team approach, particularly involving genetic health professionals, wherever practicable in the delivery of rapid genomic testing services. Pre-test genetic counselling should be tailored to the family and followup appointments should be offered. Explicit informed consent for rapid genomic testing should be obtained, even in acute care settings. "
Specific measures for data-intensive health research without consent: a systematic review of soft law instruments and academic literature.
Julie-Anne R Smit et al. Eur J Hum Genet 2023 10
From the abstract: " We performed a systematic review of relevant soft law instruments and academic literature to identify what measures are mentioned in those documents. Our analysis resulted in the identification of four overarching themes of suggested measures: organizational measures; technical measures; oversight and review mechanisms; and public engagement and participation. Some of the suggested measures do not substantially contribute to the clarification of the GDPR’s “suitable and specific measures” requirement because they remain vague or broad in nature and encompass all types of data processing. "
The reuse of genetic information in research and informed consent
D Lorenzo et al, EJHG, September 13, 2023
From the abstract: "Important advances in genetics research have been made in recent years. Such advances have facilitated the availability of huge amounts of genetic information that could potentially be reused beyond the original purpose for which such information was obtained. Any such reuse must meet certain ethical criteria to ensure that the dignity, integrity, and autonomy of the individual from whom that information was obtained are protected. "