Introduction to Personal Genomics
What is a personal genome?
The field of ‘personal genomics’ is dedicated to analyzing and interpreting the genome of a single individual. This interpretation and analysis may include diagnosis of ongoing disease, prediction of disease susceptibility, or traits that are not necessarily medically relevant (such as taste preferences, or behaviors).
In the past decade, there have been a number of research projects and direct-to-consumer genetic testing companies dedicated to better understanding and exploring this field. Companies such as 23andMe analyze individual users’ genetic data to produce a report making predictions for ancestry and a number of common traits. Ancestry.com provides detailed information on ancestry based on genetic data and self-reported family trees. DNAFit provides a genetic test and report that gives recommendations on diet and exercise based on an individuals genome.
Millions of people have received genetic tests and researchers have uncovered thousands of associations between genetics and interesting traits. But personal genomics is still in it’s infancy and there are many questions still remaining about what we can do with all of this data.
Breast Cancer Susceptibility
Individuals with mutations in either of two genes, BRCA1 and BRCA2, have a strongly elevated risk of breast cancer. According to the National Cancer Institute, the lifetime risk for a woman to develop breast cancer is about 12%, but for individuals with mutations in BRCA1 or BRCA2 this risk rises to 55–65%.
Parkinson’s Disease Risk
This neurological disorder has also been extensively studied from a genetic perspective. A number of genes have been discovered that, when mutated, result in elevated risk for Parkinson’s: LRRK2, PARK2, PARK7, PINK1, or SNCA. However, in the case of a genetic test indicating elevated risk for Parkinson’s, it is not always clear what (if anything) could be done to manage risk. As a result, genetic tests to predict risk of Parkinson’s (as well as other neurological diseases such as Alzheimer’s or Dementia) are frequently criticised.
Predicting Side Effects of Pharmaceuticals
The field of ‘pharmacogenomics’ is dedicated to understanding how differences between individuals at the genetic level might affect the efficacy or side effects of pharmaceuticals used in treatment of a disease. For instance, it was shown that individuals carrying a particular genetic variant were prone to developinga severe rash when taking abacavir (used in HIV treatment).
