How Physicians Can Add Genomics to Their Portfolio

February 19, 2020
Doctor surrounded by DNA strands

The cost to have a person’s genomes decoded has dropped from $100 million in 2000 to less than $600 today. Within two years, the price is expected to drop to $200 or less. That’s because the decoding process is faster than ever. It took 15 years to sequence the first genome. It now takes hours.

The lower cost opens the door to new healthcare opportunities, especially for patients with rare or undiagnosed diseases. Many people are walking around with diseases and don’t even know it. Genomic sequencing can uncover these diseases and potentially save a person’s life. Genomic testing looks at a person’s genes, how those genes interact and how those interactions can affect that person’s health.

Consumers can purchase kits that decode, or sequence, their genomes. Sharing the results with a physician can lead to high-value outcomes:

  • Identify current, potential or genetic health risks, such as preventive conditions like cardiac arrest.
  • Diagnose diseases, including rare diseases, that traditional medical tests may miss or are unable to identify.
  • Understand responses to medicines based on genetics, which could prevent adverse drug reactions.
  • Provide early detection of medical conditions and genetic disorders, leading to earlier treatment.

Physicians can use the information from the tests to prescribe any necessary medications, work with patients on lifestyle changes to mitigate health risks, and discuss a preventive treatment plan for any issues. 


Genomic and DNA testing have become more popular due to advertising campaigns, people interested in learning about their ancestry and increased press coverage. For example, in 2018, the media featured several stories about how a DNA profile helped law enforcement catch the “Golden State Killer.” The serial rapist and murderer had eluded detection for more than four decades, until police gained a key piece of evidence from an open-source genealogy website.

While genomics and DNA testing are not mainstream in non-acute care, as the price drops, they could be. In fact, some experts say genomics will lead all healthcare innovation, become part of standard care and be included in a person’s medical record. That’s because genomics could unlock new information about diseases, medicines and personalized care. Right now, the primary benefit is that genomics can lead to faster diagnoses and more informed medical decisions for treatment. Doctors can use details they didn’t have before to make a diagnosis.

However, one barrier to physicians recommending and using genomic reports is that they’re unfamiliar with how to apply them to their practice. Keeping up with innovation is a challenge for doctors, and many physicians went to medical school before the first genome was even decoded. As a result, a gap exists between breakthrough medical discoveries like genomic sequencing and incorporating those innovations into a physician’s practice.

Doctors who close that gap by learning how to read genomic reports and interpret the results for patients can grow their business. 


At the HLTH conference in Las Vegas last October, Francis deSouza, president and CEO of Illumina, which is “improving human health by unlocking the power of the genome,” shared a story that highlights the critical role genomics can play in healthcare. He said a mother took her 16-month-old daughter to the doctor because she was ill. The doctor said she had an infection and would recover, but she grew weaker. Three months later, her mother took her to a neurologist, who wasn’t able to help her. As the baby continued to get weaker, her mother took her to another neurologist who misdiagnosed her, so the prescribed medicine didn’t help.

When the baby was 25 months old, her mother saw a woman on TV who appeared to have the same symptoms as her daughter. The woman said she’d been diagnosed using genomic sequencing, so the mother had it done for her daughter. The sequencing revealed that the little girl had riboflavin transporter deficiency type 2. Had she been diagnosed and treated earlier—treatment is high doses of an inexpensive Vitamin B supplement—the girl would not have lost the ability to walk, use her hands and swallow on her own.

During deSouza’s conversation with a journalist on stage at the HLTH conference, he said a misconception exists that rare diseases do not affect many people. In reality, rare diseases impact 250 million people around the world. It takes seven to nine years on average for these people to be accurately diagnosed, they are typically misdiagnosed two to three times initially, and 10% of those families go bankrupt paying for their care.


Some experts say it’s only a matter of time before millions of consumers have their genomes decoded. In the meantime, clinics can take advantage of genomic testing by discussing results with patients who have it done. This can provide new business for physicians who alert patients that they can share the reports with the clinic, then discuss potential risks and preventive treatment plans.

Even popular DNA testing companies like 23andMe that offer ancestry and health testing kits starting at $199 provide reports that can shed some light on personal health. For example, 23andMe says its Genetic Health Risk reports “tell you about genetic variants associated with increased risk for certain health conditions.” Its Carrier Status tests “tell you whether you carry genetic variants that may not affect your health, but could affect the health of your family.”

Physician offices can work with companies that provide clinical-grade genetic testing for patients, like Color. Doctors can have the kits in-house and help patients collect a saliva sample and fill out the forms, or refer patients to the site where they can purchase a kit and complete it themselves. Color lets physicians allows doctors to request kits for their offices. Typically, kits are sent to the manufacturer, which usually respond in several weeks with a report. 

The tests are another way clinics can expand their portfolio of services and collaborate with patients about their health and wellness options.

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