Medicine is always at the forefront of technological advances, and genetic testing is certainly riding that wave. Personal genetic testing has been widely accepted, and the technology has made inroads into hospitals as well. One company is also planning to bring genetic testing to medical clinics to facilitate physician use in diagnostics and treatment.
As a forward-thinking physician and entrepreneur based in Atlanta, Dr. Mark McKenna shares his insights in explaining how genetic technology will being used in medicine. He believes that human genetics will dramatically change health care as it promises exciting customized preventative care and treatments.
Personal Genetics Testing
In the past, genetic tests have been available only through physicians, nurse practitioners, and genetic counselors. The test was ordered from a laboratory, collected and samples were sent for interpretation, explains Dr. Mark McKenna.
Today, 23andMe is one company marketing directly to consumers, and this at-home genetic testing has gained great appeal – just as ancestry DNA testing has exploded in popularity. The individual can obtain their genetic information privately without involving a doctor or insurance company.
23andMe is known for its at-home DNA analysis involving a saliva sample. For two hundred dollars, the company will provide data on your risks of carrying certain diseases and your ancestry.
The company’s CLIA-certified lab extracts DNA from cells in a saliva sample. Then the lab processes the DNA on a genotyping chip that reads hundreds of thousands of variants in the individual’s genome. The reports meet FDA criteria for being scientifically and clinically valid.
Participants can also take part in 23andMe’s genetic research project, answering online survey questions. Researchers then process this genetic data to analyze patterns in ancestry, traits and disease. The company’s current initiatives are focused on genetic differences in how people behave when depressed, handle pain, and manifest symptoms of diseases.
Patients gain greater insight into their own health
Dr. Mark McKenna believes that personal genetic testing is an important step in educating patients about their own health risks. Patients can learn if they have genes that predispose them to a particular disease, which can prompt them to be more vigilant about disease symptoms.
In medical practice, he says this testing can open a discussion with the doctor about the disease and steps to take in prevention. There may be additional tests necessary to clarify the findings. He views this paradigm shift as a positive step in moving patients toward a proactive instead of reactive approach when disease symptoms develop.
The era of customized medicine
A tremendous number of people – over two million – have already been genetically tested by 23andME, and 85% of them have opted to complete the online survey as part of drug research. This has produced a huge amount of genetic data that can illustrate the nuances of individual risks and behaviors. This trove of genetic information portends a future of personalized medical treatments based on genetics.
Dr. Mark McKenna believes that genetics testing holds great potential in improving accuracy of diagnostics. In patient consultations, the practitioner must make an on-the-spot diagnosis, yet symptoms for any disease may vary widely. He foresees a day when genetics will drive the development of personalized medications.
23andMe moves into drug development research
The research provided by companies like 23andMe will feed that possibility, says Dr. Mark McKenna. In fact, the company is already leveraging that information making inroads into drug development and research.
23andMe is working with the FDA to gain approval for more genetic risks tests, including for breast cancer markers BRCA-1 and BRCA-2. The FDA has already approved 11 genetic health risk tests created by 23andMe, including tests for Parkinson’s, Alzheimer’s, and the rare genetic disease Bloom Syndrome.
The company has also partnered with Pfizer to conduct drug research using 23andMe’s genetic data. A therapeutics division has been developed, with Genentech’s Richard Scheller at the helm, as well as veteran pharmaceutical scientists. The company has also started a Parkinson’s research study, and is partnering with companies like Celmatix to conduct studies on fertility and genetics.
Making genetic data analysis accessible for clinics
Genetic testing is also moving into the clinical setting, as the startup Genoox wants to make it easier for medical professionals to use genomic data in patient care. Genoox ’s genetic analysis software is already used in many of the top genetic medicine institutes and commercial labs in Israel. The company will use its latest funding for expansion into the U.S., reports Dr. Mark McKenna.
The technology analyzes rare genetic mutations and predicts the probability they are responsible for a condition. This process makes it less time-consuming and expensive for clinics to handle data from genetic screening.
Next-generation sequencing technologies, which can sequence entire genomes within a day, are currently accessible to only a few facilities. Genoox’s founders want their tools to make a routine part of patient care, available to all medical professionals.
Genoox’s platform can examine data from both whole-genome sequencing (WGS), which sequences all the base pairs in a genome at one time, as well as whole-exome sequencing (WES), a less costly alternative to whole-genome sequencing that sequences exons, which make up about one percent of the human genome.
Both are important tools for diagnosing hereditary genetic disorders, especially for rare childhood diseases, which require both known and rare mutations to be examined. New applications are planned to test whether a person is a carrier for inherited genetic disorders, prenatal testing, and genetic testing for cancer.
Hospital-based genetics testing platforms improve diagnoses
To give hospital patients better and faster diagnoses, hospitals have relied on IBM Watson. Now, the Switzerland-based SaaS startup Sophia Genetics is entering the race, reports Dr. S. Mark McKenna.
This company has built a big data analytics platform that utilizes clinicians’ medical expertise along with genomic diagnostics – which improves diagnoses for patients with complex diseases such as cancer. Sophia Genetics is adding 10 new hospitals every month – with all expert DNA sequencing diagnostic insights shared across the platform. Patients anywhere can benefit from the pooled knowledge.
Sophia Genetics is also aimed at providing a “democratization” of DNA sequencing expertise – so that every hospital joining the system will require less competencies, less experience to be able to diagnose patients through the use of genomic information.
Dr. Mark McKenna applauds these applications of genetic testing on the personal, clinical and hospital level. This new will lead to advances in every specialty of medicine, and guide both physicians and consumers toward improved diagnostics, treatments and preventives.
About S. Mark McKenna, MD
Mark McKenna, MD, CEO and founder of ShapeMed, (shapemed.com) is an MD licensed in Surgery and Medicine by the Georgia State Board of Medical Examiners. He is a passionate patient advocate and a dedicated community servant.
Dr. McKenna is committed to providing his patients with the most comprehensive medical weight loss solutions, along with a variety of cutting-edge NSA (Non-Surgical Aesthetic) procedures.