Last month a group of stakeholders convened to discuss current regulation of pharmacogenomics by the FDA. The opinions and recommendations of this group are described in a White Paper, accessible here. The topics transcend pharmacogenomics and offer lessons for the entire field of precision medicine.

The greatest opportunity for reducing the morbidity and mortality associated with rare genetic diseases is through early detection. Since about half of rare genetic diseases manifest in childhood, genetic testing at the earliest point in life may provide the most benefit.

Consumer genetic testing for health conditions has always been viewed with some skepticism by healthcare professionals. For many, direct-to-consumer (DTC) genetic testing was synonymous with 23andMe, whose health-related products are perceived as having little to no value for health care. But the landscape for consumer-initiated genetic health testing has changed dramatically in just the last year.

Many physicians turn to the FDA-approved drug label (package insert) for information about genetic testing that can be used to optimize drug response, also known as pharmacogenomics/pharmacogenetics (PGx). Information about PGx appears in the labels of hundreds of drugs, but how reliable and useful is this information?

The genetic testing landscape has changed dramatically in the past decades and continues to evolve as different delivery models and markets are being explored. In this post, we’ll discuss how the genetic testing industry has developed and some of the recent industry trends and factors impacting its growth.

Whether it’s a physician trying to decide which laboratory’s genetic test to order, or a regulator assessing the safety and efficacy of a test, or a payer needing to make a coverage determination, all would benefit from having a coherent framework for evaluating genetic tests.

As genomic testing moves into the mainstream, there is an increased risk of lawsuits against healthcare providers. Medical malpractice claims could arise from the use, failure to use, or misuse of genomic information by healthcare providers.

Diabetes is a chronic condition characterized by elevated levels of blood glucose and the inability to properly process food for use as energy. Diabetes is a heterogeneous disease, with several different types and a mostly complex genetic etiology.

This month, the US Food and Drug Administration (FDA) sent genetic testing company Inova Genomics a warning letter because they were selling a suite of pharmacogenomic (PGx) testing products, marketed under the name MediMap, without obtaining prior FDA authorization to do so.

Patients with breast cancer as well as healthy at-risk individuals can benefit from genetic testing to determine whether their cancer is due to an inherited pathogenic variant in a cancer-causing gene. But the results of those tests are not always clear cut.

The genetic basis of common diseases like diabetes, cancer, heart disease, asthma and Alzheimer’s disease is complex. The genetic underpinning of most cases of common diseases is not monogenic, but rather, polygenic. In other words, there are genetic variants of dozens of different genes, each with a tiny effect on disease risk.