Genetic testing panels, more often than not, tend to focus these days on cancer. San Francisco’s Invitae is expanding its genetic testing panels past oncology into neurology, pediatrics and rare diseases – as well as new screening for newborns.
Multi-gene panels are proving highly effective in diagnosing specific forms of cancer, and helping doctors develop treatment plans. However, this form of testing lags behind in disorders of the brain, heart and eyes – as well as some rare hereditary diseases found in children.
Invitae’s proposition with these new panels is to democratize the genetic panel screen – testing for deeply impactful disorders that stretch beyond cancer.
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Specifically, the neurological tests will screen for more than 30 disorders, including muscular dystrophies, myopathies, congenital myasthenic syndrome and malignant susceptibility. The pediatric panel will test for more than 60 diseases, including severe combined immunodeficiency, periodic fever syndromes and 20 new rare diseases.
“The sooner an expanded testing panel is employed in the diagnosis of an acutely ill, undiagnosed child, the greater the value of the test in terms of reducing other diagnostic expenses and speeding beneficial care,” Steven Bleyl, medical director of the Clinical Genetics Institute at Intermountain Healthcare, said in a statement.
Newborn genetic screening has been long deployed by hospitals around the country, but Invitae’s offering does have some compelling expansions.
“Time is of the essence in this field of testing – the longer inborn errors of metabolism go undetected and untreated, the greater the damage. Inherited metabolic disorders are complex, and require thorough answers,” Olaf Bodamer, associate chief genetics and genomics at Boston Children’s Hospital, said in the statement.
