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The term genetics may evoke images of nucleic acid sequences for most researchers. However, the pragmatic filed of medicine might consider it as information about a patient that can be categorized as actionable, deterministic, probabilistic, or a variant of uncertain significance. Actionable information is any information that can inform a clinical decision, such as BRCA1/2 status informing a decision for prophylactic surgery. However, actionable information is currently the smallest category. There are over 6,000 single-gene disorders, the vast majority of which have no targeted clinical treatment. Such variants are merely deterministic, increasingly discoverable even before birth by a cell-free fetal DNA test but unable to inform any treatment that could alter the disease trajectory. A good example is the APOE ε4 allele, which imparts a high risk of Alzheimer’s disease, but currently informs no action that can change clinical outcome. Today, the discussion is whether it is ethical to test for such variants that could provide only a burden with little hope for benefit. An even greater numbers of less-penetrant variants are either certain to increase the probability of disease or have uncertain significance. Certainly, a grand challenge for all of genetic medicine over the next decade will be to move more of this information into the actionable category.

Grand Challenges in Gene and Epigenetic Editing for Neurologic Disease