Trending Topics: Precision Medicine

Precision medicine was formerly called personalized medicine. The premise is that individual patients have different responses to the same disease. Precision medicine takes into account a patient’s genes, environment, and lifestyle. Targeting those variables has led to improvement in health outcomes.

The science behind precision medicine may be new, but the concept isn’t. Blood typing is a personalized approach to medicine. Organ transplants are personalized for each patient. Lifestyle factors affect treatment too. Preventative care for an obese patient is different than for someone with a lower BMI.

Precision medicine is a combination of genetic testing and data analytics. Together they offer the opportunity for targeted, personal healthcare. It is also an investment opportunity. 

The Precision Medicine Initiative

In 2015, the Obama administration launched The Precision Medicine Initiative. Cancer patients in particular have seen the benefits of personalized treatment. Other avenues investigate treatments for chronic diseases, like HIV and cystic fibrosis.

The ultimate goal is to move from the current one-size-fits-all model. The best health outcomes occur when treatment is designed for individuals. Advances in genome typing have reduced the cost of genetic testing. The potential of precision medicine is unmatched.

Though “individualized” care is the mantra, it’s not 100% accurate. The attempt to provide 1 on 1 solutions would be astronomically expensive. Precision medicine classifies people into subgroups. The groups are defined by demographics, ranging from genetics to susceptibility.

The commitment to the original initiative continues. Universities and healthcare systems have research and clinical care centers for precision medicine. We hear the term “precision health” as a means of holistic, personalized care.

It is a successful marketing tactic. Offering services that are unique to each patient can increase patient volume. If a cancer patient hears about a unique treatment for their particular mutation of lung cancer they are more likely to come. 

The Benefits

Precision Medicine has an impact on the quality of care. There is evidence it can reduce medical errors and improve patient outcomes. There are some concerns about the lack of controls on Big Data. Privacy and security laws are slow to catch up.

  • Increase the accuracy of diagnosis
  • Re-purpose medicine from reaction to prevention
  • Reduce the time, cost and failure rate of clinical trials
  • Minimizes side effects from one size fits all medications and treatments
  • Targeted treatments deliver better health outcomes
  • Increase the ability to detect disease
  • Decrease healthcare costs by reducing “trial and error” inefficiencies in treatment
  • Increase the ability to obstruct disease progression
  • Potential to customize disease prevention strategies
  • A better understanding of the underlying hereditary causes of various diseases
  • New avenues of research for therapeutics and possible cures
  • New hope for patients with no response to standard medications or treatments

The value of practicing precision medicine is high. Inefficiencies that clog the system can be significantly reduced. The improvement in patient experience is undeniable. No more side effects and multiple visits to find a therapy that works. Research on the disease prevention and progression will change lives.

Precision medicine is only going to become more precise, as more data is generated.

Companies that have capitalized on precision medicine have seen significant growth. From large pharmaceutical companies to at home genetic testing company 23andme. 

How Precision Medicine Works

The patient’s family history is the catalyst for genomic testing. Predictive analytics for gene mutations can indicate a high risk of serious illness. Neurological disorders can be identified before symptoms become apparent. Women considering pregnancy can identify risk to themselves and the child.

There is testing for parents of children who are developmentally-delayed. Genetic testing for Early-Onset Alzheimer’s is available. In many cases, testing can’t prevent the disease. Instead, the early awareness can drive more effective treatment planning.

Beyond genomics, lifestyle and environmental data are also factored into preventative care. Precision medicine morphs into precision health.

Genetic Counseling

A genetic counselor evaluates the risk of an inherited medical condition. They are not medical doctors. Genetic counselors have a master’s degree from an accredited genetic counseling program. After graduation, there is a certification process.

Counselors work in a clinical setting, either in a hospital or medical practice. They work in many fields, including prenatal, pediatric, cancer, and adult medicine. Some specialize in infertility or neurological disorders, among others.

Their role is to guide patients through healthcare planning and decisions. The counselor offers knowledge and support in what can be an emotional process.

The top reasons patients see a genetic counselor are as follows:

  • Women/couples who are pregnant or planning a pregnancy. This involves identifying risks to the mother and/or the fetus.
  • Parents looking fora prognosis and treatment options for a child. This can confirm Autism Spectrum Disorder and other developmental delays.
  • Cancer patients or patients with a family history of cancer. This addresses early intervention planning and treatment.
  • Adult patients who have a family history of chronic diseases.

Genetic testing around pregnancy and child development involves highly emotional decisions. A genetic counselor helps them decide how much information they want to receive. Genetic testing isn’t just about a single patient. It can affect an entire family.

Depending on the practice or specialty, it may make sense to add a genetic counselor on staff. Others may outsource the role to a third party. The demand for precision care will continue to grow. Oncologists, pediatricians, neurologists, and OBGYN practices want to have one on staff.


Genetic testing is performed for purposes of prevention and treatment. The tests identify genomic variants and mutations. The point of testing is:

  • To see if you have a genetic predisposition to a disease.
  • To check for genetic risks for a possible pregnancy.
  • To confirm the symptoms you or your child is experiencing.
  • To create a cancer prevention/treatment plan

The testing procedure is non-invasive. Patients provide a blood or spit sample that’s sent to a lab for testing.

The most common tests are single gene and panel testing.

A single gene test is helpful when a patient is showing symptoms or has some history of a specific disease. The doctor or counselor is aware of the disease history. They target the applicable gene to identify predisposition. A single gene test might be used to check for sickle cell disease or muscular dystrophy.

Panel testing has a broader scope. It looks for changes in categories of genes grouped by medical conditions. The tests can be targeted to specific health concerns, such as epilepsy. Panels can target mutations that indicate a proclivity for specific types of cancers.

There are other testing protocols for complex medical issues, but these are the most commonly used. If ordered by a physician or a genetic counselor, insurance providers usually cover them.

Preventive testing

Precision medicine is mainstream – it just isn’t always labeled as such.


Newborn screenings are required in all 50 states. The screenings take place in the first few days after birth. They test for disorders that impact child development. The screening captures potentially serious health problems before they present. The testing opens a window for early intervention on physical and mental disabilities.


If a patient has a family history of breast cancer, genetic testing is available. The inherited mutations present in the BRCA1 or BRCA2 gene.

The five Lynch Syndrome genes indicate risk for inherited colorectal and endometrial cancer. Mutations of these genes increase the risk for ovarian, stomach, and pancreatic cancers.

There are other cancer testing protocols. Genetic testing is available for thyroid cancer, prostate cancer, melanoma, and kidney cancer.

Cancer is highly influenced by lifestyle choices – tobacco use is the best example. Environmental exposure to carcinogens also adds risk. These factors add to treatment planning.

Alzheimers & Dementia

Early-onset Alzheimers is rare, representing only 10% of cases. There are three gene mutations are associated with the disease. The mutations produce abnormal proteins that are indicators of the disease. A biological child of anyone carrying the mutation has a 50% chance of inheriting it.

There is no genetic testing for late-onset Alzheimers, but research is continuing.

Public Health Surveillance

Urgent research on the novel coronavirus prompts the use of precision medicine. The virus impacts people differently. Understand which groups are at risk may help contain the virus and save lives. The COVID-19 Host Genetics Initiative is leading a global effort to combat the virus.

This research studies the COVID outbreak in Oregon. The authors found a series of rare genetic mutations that may help track COVID’s spread.

Remember when there was a recall of romaine for e. Coli bacteria? Genome sequencing can be used to help identify the source of the outbreak. Stool samples from affected patients can confirm the strain of the bacteria. After compiling the data, common indicators become clear. If the common strain and a single source come together, it’s easier to stop the outbreak


Genetic testing can be applied to clinical care.

Pharmacogenomics uses DNA to understand how individuals respond to medications. Different people react differently to prescription drugs. This technique helps doctors choose medications that get the best health outcomes.

Tumor profiling is the genetic testing of cancerous tissue. The results help to forecast the likelihood of the cancer’s return. The information they provide can help patients make the best decision for treatment.

Put Precision Medicine into Practice

Should a precision medicine program be part of your practice? That depends on the value it offers your patients. An oncologist will have a greater need for genetic testing than a primary care practice.

There’s nothing stopping doctors from sending samples to a lab for genetic testing. This is a list of providers by location and specialty. The level of comfort in reading and communicating the results will vary. A genetic counselor can help fill any gaps.

New telehealth providers supporting genetic testing. They do direct-to-consumer testing. But they also partner with doctors. This could be a solution for smaller practices. A precision medicine program isn’t a one-off. It gives you access to data and the tools to use it.

Reimbursement for genetic testing services can be a stumbling block. Discussions with your network payment providers is a must. Engage your billing staff to see if additional codes need to be added to the system.

Third-Party Platforms

Data security is a huge factor in precision medicine. For most doctors, it doesn’t make sense to handle that in-house. There are platforms to help you manage your program. For example, the American Heart Association has a precision medicine platform for cardiologists.  Other commercial providers like Orion Health have precision medicine platforms. Companies like ixLayer have an online testing program.

Whether you chose to create a program or simply partner with a service provider, get precision medicine on your radar. Consumers with chronic or life-threatening illnesses want a proactive approach to care.

In Closing

More and more physicians are incorporating precision medicine. According to Science Magazine, 1 in 5 Americans have a genetic mutation. Though the sample size was small, that’s 20%.

Technology is changing the way doctors approach healthcare. For some, that change is overwhelming. For others, it’s an opportunity. Either way, there is no going back.

Precision includes accountability. Precision reduces error. Precision increases patient satisfaction. Precision medicine takes us one step closer to precision health.

Physicians that can offer personalied medicine and treatments will have greater success in marketing. There are significant opportunities on the investment side as well. 

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