DNA sequencing and personalised medicine

Question 1

next-generation sequencing: use to determine basis of monogenic diseases (e.g. BRCA)

Answer 1

determine molecular basis of monogenic (one gene, 1+ mutations) disease: companies sequence your genome and look for certain genetic markers (carrier status, risk of late-onset)

Question 2

genetic-testing services: complex diseases

Answer 2

limited clinical utility, undue alarm, false reassurance, privacy

Question 3

genetic-testing services: common diseases (e.g. type 2 diabetes)

Answer 3

genome sequenced (need reference genome); identify new gene mutations in monogenic or identify differences between normal and cancer cells for targeted treatment