Our DNA is our life code. It makes us who we are.
Genomics is one of the most exciting clinical care advancements of our lifetime. Genomics is a building block in driving precision medicine and value-based care forward.
Although there’s been significant advancement over the past 10 years, it’s been only 20 years since the first human genome was sequenced. Things initially felt a little slow, but we’re now seeing more rapid acceleration – both in the pace of scientific discovery and in lower sequencing costs. That combination is opening up clinical utility and use cases, such that genetics and genomics are becoming much more present in everyday clinical care.
Here are some of the many exciting advancements within the very broad umbrella of genomics I'm excited to break down.
1. Genetics will be used in primary care in routine screenings for the predisposition of cancer and cardiovascular disease.
We're seeing advancement in these areas because more patients are eligible for genetics care, including genetic testing. Genetics care is not yet ubiquitously available or covered, even though the Centers for Disease Control and Prevention (the CDC) has called out three hereditary conditions that put individuals at a significantly heightened health risk: hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia.
I believe that within the next decade, anyone over the age of 18 will receive routine genetic screenings for both cancer and cardiovascular disease. That's important because it would allow us to improve outcomes and move to preventive medicine, rather than waiting for individuals to become symptomatic. And in areas like cardiovascular disease, where someone’s first symptom might be a sudden cardiac arrest, having that risk insight in advance can allow the prevention of that dire outcome and maybe even ward off disease. Or, at least the underlying disease could be detected and found early, when it’s most treatable. Advancements like this will drive the greatest population impact over time.
Regarding the population impact, roughly 17 percent of the population has been shown to carry a genetic mutation for which there are treatment and preventive options. That's one out of every six people.
One in six people has been shown to carry a genetic mutation for which there are treatment and preventive options.
This isn’t just about rare diseases. This is about common conditions and helping better inform the clinical care for each individual. Rather than having one standard of care for the population at large, we're moving into a more risk-based standard of care. So, if you're at high risk for cancer or cardiovascular disease, your screening program will be different than that of the general population. These guidelines exist today, but we are falling short of being able to identify the vast majority of these high-risk individuals yet, so most are not getting access to the care they need.
2. Genomics will be used to improve both the accuracy and diagnosis for thousands of conditions.
When someone becomes symptomatic, it’s critical to get to an accurate diagnosis to determine the right course of care. Historically, we've often diagnosed people based on their symptoms, but that may not be the most accurate way to diagnose. For example, autism spectrum disorders, developmental delay, or seizures in children are strongly genetic with a high degree of disease variability attributable to genes. By looking at the molecular level to see what the underlying cause is, we obtain better insights in terms of a course of care. And this allows us to get to a more accurate diagnosis faster – which is important in the patient's journey to ultimately improve health and outcomes.
90 percent of disease variability in autism spectrum disorders is attributable to our genes.
Consider, for instance, that about 90 percent of disease variability in autism spectrum disorders is attributable to our genes. We've never had easy access to that kind of information and worked for decades without those insights. Certainly, there was a time in medicine where we didn't know how to do a blood draw or couldn’t analyze a basic blood panel to help inform clinical care. These are fundamental tools in the practice of medicine today. Ten years from now, we’ll be asking ourselves, “How did we possibly practice medicine without looking at the molecular makeup of the individual?”
3. All cancer patients will receive genomics as part of their personalized oncology care.
More and more, patients are having their tumors sequenced. This allows for a better understanding of the molecular profile of tumors and ultimately can guide patients to the right treatment options. Many cancer patients also need germline genetic testing but don't often receive it. In the future, we will provide both tests at diagnosis as part of precision oncology care to improve outcomes.
On this note, one exciting advancement is molecular residual disease (MRD) testing. When someone has cancer, we are often left questioning whether the treatment has been effective and whether residual levels of cancer remain present. With MRD testing, however, rather than just taking a “wait and watch” attitude, we can compare tumor sequencing to a blood test and look for circulating tumor DNA in the blood to determine if characteristics of that tumor are present. Detecting a small level of residual disease could then indicate that further treatment is needed and warranted. This will help us monitor cancer progression. It’s just another tool that allows us to better diagnose and treat – particularly for oncology care, where we know a more informed treatment plan affects a better outcome.
4. Determining the right treatment plan will be based on looking at how our genes interact with drugs and the role our genes play in how we metabolize drugs. Pharmacogenomic testing will help make this a reality.
How different people respond to drugs – like whether there’s an adverse drug response or efficacy – can be significantly dependent upon our genes. We can therefore improve drug efficacy and reduce adverse drug response by looking at those gene-to-drug interactions. This category of testing is called pharmacogenomic testing, or PGX for short. Ninety percent of patients possess clinically actionable genetic variants. PGX testing is being used to develop more targeted therapeutic plans so we can get to the right drug the first time, and even improve the right dosing by looking at whether there's increased or reduced sensitivity to the medication. Where PGX is most applicable right now is in drug categories for mental and behavioral health, pain management – especially regarding opioids – and cancer care.
Regarding broad-based clinical care, we see more drugs under development that utilize biomarkers to determine efficacy in given patient populations. Nearly two in three drug approvals by the U.S. Food and Drug Administration (FDA) include biomarkers. I believe most drugs in the future will be “precision medicine” drugs, meaning they can be prescribed and/or dosing can be established based on your genetic factors.
The Population Impact
Our genetics contribute to our overall health. Ninety percent of people are carriers for genetic conditions, meaning their genetic condition could manifest in their children, depending upon whether someone’s partner is also a carrier for that same condition. Fortunately, the actual rate of genetic disease at birth is much lower – at about two to three percent of all babies.
Ninety percent of people are carriers of genetic conditions. Seven to eight percent of the population has a genetic condition during their life.
Some conditions present as children reach the toddler years. Others manifest later in life as adult-onset conditions. Ultimately, seven to eight percent of the whole population has a genetic condition during their life. As we understand more about what causes disease, we are seeing the increasing importance of polygenic risk factors, where multiple genes play a role in complex conditions – like Type 2 diabetes. This will be another important clinical area to watch.
My Biggest Takeaway? Let’s Empower Patients.
Personalized medicine promises to deliver the right treatment to the right patient at the right time. We are closer to realizing this potential, but significant barriers still exist. History shows that it takes almost 20 years between the demonstration of clinical utility and broad accessibility for patients.
We are well on this journey for genomics, but because the field has advanced so quickly, not all clinicians understand how to assess hereditary risks in their patients or know where to send them for treatment. Not all clinicians are adopting these latest advancements; it simply takes time for them to become part of routine medical care. Even where we have professional society guidelines and reimbursement coverage, there is still a significant care gap.
It’s so important for patients to take empowerment into their own hands. I envision a future where patients with symptoms that aren’t going away – those living in a diagnostic odyssey trying to figure out what's going on – find solace in genetics and genomics. This will transform the face of health care as we know it, and make preventive medicine the norm, versus the exception. It will help us improve clinical care for patients everywhere.
I hope my predictions ultimately come to pass and we realize a future where this kind of empowerment becomes reality. This is a future where genetics and genomics play an important role in improving population health.