Genes 2 Brains 2 Mind 2 Me

Image via Wikipedia Doctor David Ledbetter gives an eloquent editorial overview in his piece, “Cytogenetic Technology: Genotype and Phenotype” [doi: 10.1056/NEJMe0806570] on the renaissance underway in the field of medical cytogenetics. The use of high density arrays for genome-wide copy number variation has identified a slew of new sites showing recurrent microdeletion that are reliably found in patients with mental developmental disabilities (autism, mental retardation, schizophrenia to name a few). Ledbetter suggests that the ‘genotype first’ process of diagnosis is now much more effective with the help of the new arrays. He notes, “a pediatrician has the option of ordering this test as an adjunct to or replacement of a standard karyotype and can expect a much higher yield of clinically significant results”. This is an exciting realization of the long-awaited promise of genetics in medicine.