MMIM: an introduction

This article was originally published in issue 1 of the MMIM newsletter.

How often do you worry about your health – the conditions you might develop or inherit? Imagine being able to have your DNA analysed for potential diseases, and dealing with them before they become serious. Or, for those with conditions that are already present, being prescribed medication to match your unique genetic profile.

Many diseases are known or thought to be affected by genetic predispositions. A person is much more likely to develop type 2 diabetes if other family members have the condition. However, diabetes is even more dependent on environmental factors, mainly diet and exercise. People living a Western lifestyle are far more likely to develop diabetes than non-Westernised people, regardless of genetic predisposition. If a person with at risk of developing diabetes is aware of it, he or she can make lifestyle changes to avoid this outcome.

Similarly, several types of cancer are known to have genetic factors. Breast cancer is probably the most famous example. Women with a close relative with breast cancer are more likely to develop it themselves. Certain variations in two genes, BRA1 and BRA2, are associated with breast cancer. DNA testing can be used to identify these variations in individuals.

It is likely that other genes are involved in breast cancer, and that other types of cancer have similar genetic associations. These connections can be made by studying the genetics of past and present cancer patients. Melbourne Health is working to link the relevant genetic data and clinical information for patients with colorectal cancer, diabetes and epilepsy, with more diseases to be added in time.

This project, the Molecular Medicine Informatics Model (MMIM), is a collaborative effort between scientists studying genetic aspects of disease; epidemiologists (researchers of public health); and IT specialists. They are combining their expertise and results to create a virtual database of genetic and clinical data from several different sources (Melbourne Health; Austin Health; the Peter MacCallum Cancer Centre; and the Ludwig Institute for Cancer Research). Scientists can use this database to help them study how certain genes relate to specific diseases.

This is where the benefit to patients, or people who might become future patients, comes in. With the identification of more genetic factors that cause diseases such as cancer, people in higher risk groups, or the general population, can have their genetic make-up tested. If they carry genes that are associated with disease, they can make lifestyle choices to reduce their risks, as well as undertake regular screening so that if they do develop a disease such as cancer, it can be treated at an early stage.

The MMIM database will also help doctors to understand why particular drugs work for some patients and not others. Within one disease, one drug may suit people with one genetic profile, while another works for those with a different profile. This type of information can assist in selecting currently available medication, as well as helping match patients with suitable clinical trials, if the drugs that are obtainable are unsuitable. In this way, treatment is tailored for each individual’s needs.

Prevention is always better than cure, and customised treatment is more accurate than generalised therapy. The MMIM database is forming a network to make this type of medical treatment a reality.