Jane Tiller writes:
New guidance from Australia’s national privacy regulator clarifies clinicians’ discretion to contact a patient’s at-risk relatives directly about serious genetic risk.
Clinicians who order genetic tests know that for some genetic tests, a positive test result isn’t relevant only for the patient in front of us. Pathogenic variants in genes linked to predisposition to cancers, heart disease or other conditions come with significant risks, not only for patients, but also for their blood relatives. Using cascade testing, we can identify who else in the family may carry the same variant and offer timely interventions. For younger relatives in particular, this knowledge can be life-saving. Moving into a space where we use genomics to prevent disease, rather than just to diagnose or treat it, is my life’s passion. The DNA Screen study, which I co-lead, is piloting the offer of preventive genomic information to the whole adult population.
Often, however, there’s a major sticking point once we know about genetic risk in the proband: telling the family. Some patients are uncomfortable making contact. Others may be estranged, uncertain of how to have the conversation, or simply overwhelmed. The rate of cascade testing of at-risk relatives is estimated to be less than 50%. As clinicians, we might be asked: “Can you tell them for me?”.
Research tells us that when clinicians do notify relatives directly, cascade testing uptake generally increases. In a 2005 study done in South Australia to test this, the directly notified cohort had double the cascade testing uptake of the “usual practice” cohort. Despite this, many Australian clinicians have been hesitant to act, fearing it might breach privacy laws. Thanks to updated guidance from the Office of the Australian Information Commissioner (OAIC), however, we now have clear, national guidance that supports clinicians’ discretion to notify at-risk relatives directly, without breaching the Privacy Act 1988 (Cth).
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