Why Genomics is the Foundation for Precision Medicine

Precision medicine, also called personalized medicine, is a growing trend in healthcare. Historically, medical guidelines are based on studies that look at the average person. But the science doesn’t take into account the outliers. Evidence-based medicine has, until recently, been a one-size-fits-all approach. But with the advancements in genetics, medical care is becoming more and more individualized.

Precision medicine is based on the knowledge gained from studying an individual’s genome – the unique DNA found in each of their body’s cells. We all have genetic variants – or mutations – that make each of us unique, with a different health and disease profile. When a person’s genome is sequenced, medical providers can use that genetic information to prescribe more effective disease treatment plans and prevention strategies. 

Right now, there are over 30 million people living with rare or undiagnosed diseases in the United States. On average, they wait 4-5 years before receiving a diagnosis and the average medical costs are $12,000-16,000. Many rare disease therapies and medications are not covered by insurance. Whole genome sequencing and precision healthcare aim to reduce the cost and eliminate the wait, worry, and uncertainty.

What is Precision Medicine?

Precision medicine is individualized medicine. It helps guide decisions about disease prevention, diagnosis, and treatment. With the information gained from sequencing a person’s entire genome, a medical provider can then select the proper medication or therapy and know that it will work. Genetic information even helps doctors know what dose to prescribe and what medications may cause adverse side effects or allergic reactions. All of this is being advanced through the data and knowledge gained from whole genome sequencing offered by Fore Genomics.

Genomics is the foundation upon which precision medicine is built. Genome sequencing gives us a window into our individual differences on a molecular level. With the help of whole genome sequencing, clinicians can make educated predictions about an individual’s disease risk. This allows peace of mind as you work with your doctor to choose a prevention or treatment plan that is right for you.

The benefits of precision medicine are vast. They include the following:

• It can help someone prepare for a disease they’re at risk for, thus minimizing any medical impacts
• It can help a patient avoid years of unnecessary and costly tests and procedures
• It can help family members be aware of what diseases they may be at risk for
• It lowers costs for the entire healthcare system by correctly matching genes to correct therapies
• It helps society as a whole: the more people who have their genomes sequenced, the more we understand the complex science of disease predisposition and environmental interaction. Each person who gets tested helps society as a whole.

The Need for Precision Medicine

Precision medicine is needed now more than ever, especially since it’s estimated that 80% of rare diseases have a genetic origin. Not only are over 30 million Americans living with rare or undiagnosed diseases, but scientists have identified more than 7,000 rare diseases. Patients living with undiagnosed disease often only receive treatment for their symptoms because the underlying causes are unknown. Many patients wait years for an answer, if the answer comes at all.

During this time of uncertainty, patients visit different doctors, clinics, hospitals, and specialists. Well-meaning medical providers try different medications or therapies, hoping to find the answer. Misdiagnosis is a common problem. The trial-and-error cycles can be costly and frustrating. Many patients spend their free time researching their symptoms online and trying to learn from others who may have similar symptoms. The wasted time and mounting costs are a huge burden to people who need and deserve answers. With the help of genetic testing, precision medicine aims to put an end to that struggle.

Current Impacts of Precision Medicine

The work of precision medicine is marching ahead and patients are experiencing positive clinical outcomes already. There are several areas where patients are finding health, hope, and answers:

• Achondroplasia: this bone-growth disorder has been linked to a specific gene. The connection between the condition and the gene led to the creation of a medication that is now in phase III clinical trials. It is shown to improve bone growth in people who have that gene variant.
• Cancer: Several breast cancer genes have been recognized and that is directing therapeutic strategies for patients. Patients with specific genes have more options regarding the reduction of risk. For other cancers, specific medications are known to work well for patients who have certain genetic variants. Overall survival has already increased.
• For HIV, some genes are a red flag that let prescribers know not to use certain medications due to the risk of severe adverse reactions. Patients are already being saved from these reactions. 
• High cholesterol: Inherited high cholesterol often begins in childhood and is estimated to affect 1 in 500 people. Since it is connected to a higher risk of cardiovascular disease, knowing about it earlier helps patients choose the proper medications.

The Role of Genetic Health Screening

None of this cutting-edge science is possible without genome sequencing. Fore Genomics has a unique and advanced approach to DNA sequencing and analysis. Beginning with a simple cheek swab done at home, the sample is then used to sequence your child’s entire genome. What sets Fore apart from others is that we re-analyze the same sample every year. With dozens of new genes being linked to diseases every year, annual analysis takes advantage of the new, emerging science.

Sequencing of the genome is fast and autonomic, but what do we do with the results? Because of the relatively newness of precision medicine, many doctors do not know how to turn the results into clinically useful information. The results must be interpreted correctly, but doctors are not trained to do that. Fortunately, ForeGenomics has highly qualified genetic counselors to interpret results and explain them in lay terms. They are the connection between learning the science and creating healthier outcomes.

Scientists still don’t understand how all genes work, and genetics is a rapidly evolving field. Precision medicine isn’t available for all fields of medicine yet, but the science is moving forward rapidly, and with the yearly updates, Fore is posed to take advantage of new findings as soon as they are made known.

Summary

In science, as we learn more, we do better. The knowledge gained from genomic variant research in populations is already being applied in clinical trials and drug development. The combination of precision medicine and experts in genomics means a more proactive future in healthcare. We are leaving behind the one-size-fits-all approach. The future of healthcare is precision medicine, fueled by the science of genomics. Precision medicine is the biggest revolution in medicine in years and Fore Genomics makes it possible.