A genetic revolution is coming. It’s time the medical community and policymakers discuss it.

As technology advances and the price for genetic testing decreases, it is likely that within the next five years, DNA sequence information will be part of a patient’s medical records. Such a move would revolutionize the way doctors diagnose and treat medical conditions while at the same time raising complicated ethical questions.

By allowing access to a patient’s complete DNA sequence, doctors could more accurately diagnose various medical conditions, including genetic disorders. In addition, it would help doctors to better decide which medical tests are needed to establish a diagnosis and better understand how a patient’s genetics may affect the results of those tests.

At the same time, doctors could preempt the risk for certain medical conditions, at a different level of certainty, from cardiovascular disease to Alzheimer’s, Huntington’s disease to breast cancer.

Taking cardiovascular disease as an example, if doctors could see that a particular patient has a strong predisposition to it, they could tailor a personalized treatment plan designed to prevent or mitigate the condition. Of course, the plan would not only be based on genetics but would include historical information and a current medical workup. However, the patient’s genetic information would be the catalyst for the prevention and treatment plans.

 Another aspect would be the impact on treatment allocation, whereby doctors could start prescribing medication according to genetic characteristics, improving many of today’s anguishing patient journeys. Instead of testing medications until the right drug is discovered, doctors could match the most suitable medication to each patient right away. That would be a considerable leap in the quality of care.

Barriers to integration

 The increased availability of direct-to-consumer genetic testing has spawned the shift toward integrating DNA into medical records. These tests provide people access to their genetic information without involving a healthcare provider or health insurance company.

However, when people receive the results, they often bring them directly to their physician, who then must deal with whatever has been discovered. 

For example, a woman concerned she might have the BRCA gene that puts her at much higher risk of developing breast cancer or ovarian cancer, could send a saliva sample to the US and find out if she is BRCA positive within a few weeks. Then, if she is, she will most likely approach her physician concerned, asking for additional tests, such as an annual MRI or information about surgical preventive measures.

Financial burden

However, as a physician can only address results from a high-quality, clinically validated laboratory, they will have to explain that a second genetic test, and likely a more expensive one, is first needed. 

Of course, insufficiently reliable direct-to-consumer genetic testing can have a high emotional cost and uncertainty during the interim period prior to validating the results. 

Moreover, this information would inevitably increase the financial burden on the health system. While early detection undoubtedly saves lives, when insufficiently reliable or inconclusive in terms of the results or what can be done with them, can also lead to a lifetime of excessive testing and medical consultations and follow-ups.

An additional barrier would be the need to re-educate a large number of healthcare practitioners, as many doctors and other medical professionals will need to learn how to read and interpret genetic information.

Ethical questions arise

However, the most significant barrier to implementation should be the multitude of ethical questions that must be addressed before DNA sequencing is available to almost everyone. The medical community and policy makers must develop new regulations for managing personalized genetic data.

 For example, there are significant risks of invasion of privacy if a person’s genetic information gets out. There is also a possibility that this genetic information could be misused by an insurance company, which could raise rates due to a ‘high risk’ marker to develop a future medical condition found in a person’s genetic makeup. 

A more liberal stance is to provide the patient with their full genetic workup. An alternative is to provide him or her access to solely genetically actionable genes (ie. genetic findings that have defined and known medical consequences and treatment recommendations).

However, ‘actionable’ is a dynamic concept, whereby as research develops, and our knowledge increases exponentially – and what is not actionable today, might be actionable in a year. Should the physician be responsible to constantly re-check the patient’s genetic makeup and notify them? 

Should patients have to opt-in or sign a consent to see their DNA sequence? Or should they opt out if they do not want to see it?

The future standard of care will include the integration of genetic information into the medical decision process. This calls on medical professionals and policy advisors to be prepared and address ethical, legal and regulatory issues – today.

Dr Tal Patalon is Head of KSM Research and Innovation Center, which helps to develop tech-based medical solutions to inform global health policies and enhance healthcare services. She also oversees the Tipa Biobank Project, the largest Israeli biosample repository. She is also an active clinician, specializing in family and emergency medicine. 

Image Credits: Sangharsh Lohakare/ Unsplash.