Precision Medicine Vision

Precision medicine is medical diagnosis, prevention and treatment based on an individual’s variation in genes, environment, and lifestyle. Knowledge of an individual’s personal genome allows us to make informed decisions about the best medical care available, for that person. From fundamental discoveries to the clinic, Columbia... Read more


The development of precision medicine, applying genetic and genomic technologies to improve patient care, will raise a large number of important ethical, legal and social issues (ELSI). These challenges must be addressed in the process of delivering care to patients and families, and educating physicians and other health professionals. Addressing the questions that are likely to arise requires the participation of an interdisciplinary group of faculty with diverse areas of expertise.

The Issues: An extensive literature exists on the ELSI dilemmas attending advances in genetic and genomic technologies, to which faculty at Columbia have made important contributions. Some of the more prominent questions include:

  • Informed consent for genetic and genomic testing – How can clinicians most effectively obtain a legally and ethically valid informed consent for these procedures?
  • Impact on families – What are the obligations of clinicians with knowledge of an autosomal dominant mutation in a patient associated with a serious but preventable condition (e.g., hereditary non-polyposis colon cancer) to inform family members of their own risk, especially if the patient declines to do so? When should clinicians tell children and adolescents about diseases for which they are at risk or encourage families to do so?  What should the clinical team do if they suspect that a parent has declined potentially helpful testing for a child because of the parent’s own reluctance to know his or her genetic status?
  • Risks of discrimination – What obligations do clinicians have to inform patients of these risks, and what precautions can they take to prevent negative impact on patients and families?
  • Decisions about predictive testing – How can we best help patients think through these issues and reach the right choices for themselves and their families?
  • Biobanking and electronic health records (EHR) - Should genetic information be generally available to anyone with access to the EHR and should special procedures should be required for release of such information (e.g., to insurers) or other third parties?
  • Reproductive issues – What impact should knowledge that a parent carries a pathologic mutation have on decisions about preimplantation or prenatal testing? Given that interpretation of findings in this “high-stakes” context is often uncertain, how can patients and their partners get the best information to help inform their decisions?
  • Newborn screening – How should predictive genetic information about risks likely only to materialize in adulthood be dealt with? Should it be communicated to the family? Incorporated into the medical record? Or ignored, and if so, what are the ethical and legal implications of doing that? 


Jonathan Pritchard 

Professor in the Departments of Genetics and Biology at Stanford University and an Investigator in the Howard Hughes Medical Institute