Your DNA matters, from conception to old age: Human genetics and genomics, DNA testing in research and healthcare

You inherit ~3 billion DNA data points each (a genome) from your mother and your father, a total of ~6 billion data points, contained in every cell of your body. From conception, every data point is replicated at every cell division as you grow and age. Mistakes or “mutations” can happen at every stage and steadily accumulate as we age. Additionally, “environmental insults” such as sun and tobacco smoke can cause mutations. What are the consequences of these mutations? While we only know what ~2% of these ~3 billion DNA data points do, we know that altering just one 1 data point can cause catastrophic disease that can present in utero, at birth or later in life. We can now look at as many DNA data points as possible to give diagnoses and guide treatment from before birth to death, studying  mutations you are born with, and mutations you acquire. This presentation will look at some of the DNA analyses that are done as part of standard care for genetic diseases and cancer, and what can be done as exemplified by research using new and cheaper technologies for DNA sequencing. I will present: 1) data and exemplars of the power and limitations of genetics and genomics in both diagnostics and research; 2) A pilot of a national study, the Genomic Autopsy Study, which is the systematic sequencing of genetic terminations of pregnancy (GTOP), stillbirth or neonatal death at 13 weeks gestation to 28 days postnatal and, 3) The Australian Familial Haematological Cancer Study (AFHCS) established in 2004, and the continued discovery of genes and sequence variants causing predisposition to haematological malignancies. This includes molecular monitoring of clonal evolution and potential new treatments that may also impact sporadic HM.

Hamish S Scott’s PhD and first post-doc were at the Adelaide Women’s and Children’s Hospital, Australia, followed by 5 years at the University of Geneva Medical School, Switzerland where he progressed to faculty. He returned to Australia, in 2000 as a lab head at the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne. Since 2008 he has been head of the Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology & the University of South Australia. His interest is in the application of genetic and genomic technologies to understand diseases processes to improve diagnoses and treatment’.