Genetic screening is now reaching the tipping point of utilization due to rapidly falling costs, better interpretation tools, and clinical utility improvements.
But this wasn’t always the case.
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The distrust in genetic sequencing and medical testing is rampant, and we have a few factors to thank for that. Since we’re in the early stages of genomic medicine — as with any new approach — there is a certain sense of skepticism. This hesitation, coupled with major media scrutiny for companies that may prioritize finances ahead of quality, has influenced the public’s perception of medical testing in general. But the clinical value in today’s healthcare climate is indisputable.
Headlines touting a future of genetically modified designer babies via splicing have added to the industry’s bad rap. Hollywood films have also added fuel to the fire. We’ve all seen Jurassic Park and X-Men, where characters are genetically modified, and this “dark biology” has perpetuated the public’s misunderstanding of genomes and placed a stigma on the valuable benefits it offers. Despite these misconceptions, genomics will make its way into standard medical practices, and in the meantime, I’m here to debunk a few myths.
This is fact, not fiction.
Doctors and scientists have been solving medical mysteries for centuries. These same scientists and doctors are unlocking the secrets of our DNA and reaching scientific breakthroughs via genomics by getting to the core of illnesses and disease.
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A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
Genomic medicine is a breakthrough tool for diagnosis and treatment.
While some messaging in the media may give the impression that it’s a battle of the ages between traditional and genomic medicine, they are actually the two interlocking pieces that are bringing us into this new era of healthcare. By combining clinical expertise with the use of patients’ personal biology, doctors are now empowered to identify and manage disorders that in the past were simply not diagnosable or untreatable. With the addition of genetic sequencing, we are saving money, time and lives.
Currently, genetic testing is generally used in later stage cancers in order to determine second or third line therapies. In the past few years alone, new targeted cancer drugs rely on even earlier genetic profiling of the disease in order to determine their effectiveness as a first choice drug. These genetic tests have become “companion” tests for new drugs, working hand in glove in selecting the right patient for the right drug. As test costs fall below $1,000, these screens will become standard for most cancer treatments.
Using a value-based approach to healthcare
Genomics will give access to data in real time to get a patient’s complete integrated medical history. For example, ASCO has launched a program called CancerLinq to connect oncologists throughout the world, sharing data, including genomic and treatment information. Over one million charts are now in this system. May other databases now exist, and with increasingly powerful algorithms, doctors will be able to take complex data and boil them down to actionable measures.
The potential impact of large datasets goes well beyond cancer. We have known for a very long time that individuals react to medications differently and that certain population groups tend to metabolize drugs at different rates. Therefore, a medical database that compares patient diagnoses and treatment success rates from all over the world and actually incorporates ancestry leads to more accurate, personalized treatment options.
The same goes for those who can’t speak for themselves. Genetic testing can be especially helpful for childhood genetic disorders, when patients can’t verbalize symptoms and where preventable harm could be avoided if a diagnosis is made in time. With genetic testing, a ‘mystery disease’ becomes a precise diagnosis to determine the cause and treatment options.
What does the future of your healthcare look like?
We are looking at a modern medical miracle that is only going to improve over the next several years. Genomics has the potential to prevent illness, improve long-term care, and allow us to be proactive in maintaining personal health and an overall healthier population. Genomics has lifesaving qualities, and the only way to hear about them is through highlighting its benefits.
This is a time to embrace, not fear, medicine.
Photo: Natali_Mis, Getty Images
