New genetic discoveries are made every day. Over the last two decades researchers have uncovered a large number of genes responsible for genetic diseases, discovered new mechanisms responsible for genetic disorders and developed new technologies allowing us to consider screening and testing for a large number of conditions. These discoveries have brought many challenges for clinical and molecular geneticists: if we identify a change in a gene, is it a mutation that causes the disease or a normal variant? Can we predict disease outcome based on the change in the gene? Can we use new molecular technologies to provide more costly and rapid or more sensitive diagnosis of certain conditions compared to that currently achieved with cytogenetic analysis? What is the outcome of pregnancies found to have abnormal prenatal results on screening or testing? As a clinical and molecular geneticist facing a number of these problems in daily practice, my research aims to answer these questions and directly impact patient care.