instance, would entail determining whether she would want to know her risk of developing certain cancers or currently untreatable diseases such as Alzheimer’s. She would also need to be informed that the results could impact family members as well. Her options would need to be discussed prior to testing and a plan put in place for how, which, and when results would be delivered.
A participant noted that genomic data inevitably raise specific issues involving families. Does a patient want other family members to know about a genetic condition? What responsibility does a physician have to relay information to other members of a family? How will payers respond to various uses of this information?
Different testing and delivery models will lead patients to different actions. Having more information causes patients to ask more questions and spend more time with their providers, discussing their options and recommendations, said Gilats. “The hope is that information can be acted upon, such as with lifestyle modifications or medical intervention. But this won’t always be the case,” she said. Most people need little evidence to be concerned about a specific mutation, whereas a great deal of information is needed to reassure them that their concern is unwarranted.
Whether a result constitutes enough information to cause patients to change behavior remains to be determined, said Gilats, and depends on the specific condition. With conditions where the effects are not known or where a prevention or treatment cannot be recommended, the action a patient would take is even less clear.
In the second and third delivery models, the patient would receive results beyond autosomal recessive disorders. Depending on her specific results, she may need to see a specialist and follow up with extra surveillance or management. What are the costs of this follow-up? Would it be covered by insurance? Even if it is, the copayments alone may be cost prohibitive for some patients, Gilats said.
Costs may also be incurred by family members, either because they also are at risk or because they become a means to further assess a variant of unknown significance. Another potential cost is unnecessary screenings for surveillance purposes, said Gilats. If the patient has a mutation that increases her susceptibility to a common disease such as cardiovascular disease, but there is no family history, are extra screenings warranted?
Interpretations may and likely will change for some variants, thereby changing a patient’s risk over time. Changes in the assessment need to be conveyed to patients, which will require reinterpreting and recontacting patients after the initial results are delivered, said Gilats.
Whole genome sequencing has the potential to deliver great benefits to patients, but the results need to have meaning, Gilats concluded, and the