Description

In 2003, the first human genome sequence was produced, with a production cost between $500 million and $1 billion. However, since 2008, when next-generation sequencing (NGS) approaches entered the research setting, there has been a significant decline in sequencing costs. These approaches allow either the whole genome (via whole-genome sequencing [WGS]) or parts of it (via whole-exome sequencing [WES] or targeted panels) to be sequenced faster, at great depth, and increased sensitivity, and reduced costs have made the clinical application of WES and WGS more feasible. Conventional molecular testing of patients with genetic disorders has relied primarily on single-gene or panel testing, or microarrays.

Genomic testing has proven to be a revolutionary tool in medicine, with applications including infectious disease diagnosis, cancer treatment selection, and non-invasive prenatal testing. Biomarkers and companion diagnostics are increasingly being included in FDA labelling of pharmaceuticals to guide therapy selection, a trend that is expected to accelerate, establishing genomic testing as a mainstay in the clinic. DTC-GT can be called directly by the consumer at home without any physician recommendation or through healthcare professionals, used for genealogy purpose. The increasing numbers of products provide medical information. For example, 23andME offers FDA-approved genetic testing that examines the consumer’s risks for certain diseases, such as Parkinson’s disease, celiac disease, and late-onset Alzheimer’s disease.

One of the major concerns is the potential for misunderstanding and misinterpretation of the test results, particularly when pre- or post-test genetic counselling is not provided. With the growing consumer interest in DTC-GT there is a shortage of trained specialists needed to meet this demand. The complexity of these tests is one of the reasons the American College of Medical Genetics and Genomics has recommended that genetics experts be made available for patient test result consultations. Thus, primary care physicians assisted by genetic counsellors will likely be asked to interpret DTC-GT results with increasing frequency. Success will be defined by the ability to properly communicate results and risks identified from genetic and genomic tests back to their patients. Many DTC-GT results relate to small risk changes for common diseases and pharmacogenetics, which may be more appropriately interpreted as part of primary care and may not require an in-person visit to a genetics specialist.
Data from studies indicate that telegenetics is substantially less expensive for the institution and was associated with comparable patient satisfaction. Patients have reported high satisfaction with cancer telegenetics. These services can include a mix of virtual visits, remote monitoring tools, mHealth, and emergency response systems.

Healthcare professionals and researchers are constantly seeking both to optimize medical treatments and to avoid adverse reactions to treatments, wherein comes the role of precision medicine (PM). The PM revolution began in oncology, where genomic understanding of disease progression (e.g., identification of cancer-causing genes) enabled development of targeted therapies based on observed mutations. Changing the treatment paradigm to include lifestyle data, and to leverage digital platforms and advanced analytics to create personalized predictive models will likely revolutionize treatment delivery and enable the delivery of precision care in large heterogeneous diseases. Widespread use of PM in these diseases will require a change in the healthcare ecosystem, with increased reliance on patient-collected data, use of new diagnostics (including digital biomarkers), and an increased focus on prevention and reduced total cost of care. Each of these factors requires a transformation in how patients, providers, and payers interact to deliver healthcare.

The genomic market is poised to grow at a much faster pace with real-time drug discovery, cutting-edge diagnosis, and technologically advanced treatment.