on May 27, 2021
The Genomic Revolution
UCLA Health, UCLA’s Institute for Precision Health, and the Regeneron Genetics Center, a division of a New York-based company Regeneron, are working together to create a roadmap using a person’s genetics to identify his or her disease risks and provide preventative treatments. They are looking to move us to a time when people practice precision medicine. Precision medicine involves using preventative measures and targeted treatments that can be individualized to each patient’s genetic makeup.
The partnership is working to set up a biobank to follow “expected” outcomes for patients based on their genetics. They hope to use their genetics to gain understandings of the origin of patients’ illnesses. UCLA’s access to a bio-diverse population gives it data from a broader, larger gene pool. The more diverse the populations studied, the deeper the researchers can go to understand the impact of a single gene or gene combination on an individual. Targeted findings can be more accurate.
Illnesses tracked won’t just be limited to cancers. Other health conditions, including diabetes, heart disease, kidney disease, and one’s predisposition to other chronic illnesses will be researched.
Giving your genetic makeup for review by doctors could help you learn about and identify conditions you could suffer from before you became aware you were ill. If preventable, you can take actions to prevent those conditions. If treatable, you could be proactive and start early treatment. Such information could also be included as part of a survey of our large, diverse population to identify common genetic factors and/or mutations that cause genetically based disorders.
In Sweden, each infant is required to receive a PKU test and a sample of their genetic material is required to be stored in their National PKU Registry. Data has been collected since 1975. The information contained in this database has been jealously guarded. It is used for two basic purposes:
- To test newborns to see if they suffer from any treatable but typically undiagnosed and often deadly diseases if they go undiscovered. One such example, for which the database was named, was the requirement that all newborns be tested for phenylketonuria (PKU), which is an inability to metabolize the amino acid phenylalanine.
- To be used in an anonymized way by scientists to conduct research.
In 2016, the Swedish government commissioned a study to determine whether the information in the database should be made available to private insurance companies. People’s fear that this database would be used “against” the people sampled who may have markers for genetic diseases was determined to be a factor that would end people’s willingness to contribute DNA in the future, putting an end to valuable research that the database had made possible since its establishment in 1975. https://arstechnica.com/tech-policy/2016/07/sweden-national-dna-database-private-firms/
The problem is the cow had already left the barn. Once the government agreed to give access to the database to insurance companies, future generations, even if the parents refuse to let them be tested, would not be protected. Since the DNA of both parents was already in the database, the insurance company already had the DNA elements of the child. If one of the parents had an issue, all the insurance company has to do is assume that the child had it too.
In the US, those who have given their DNA to biobanks strictly for research purposes have been promised anonymity. Their genetic information is being used to give each person a risk score and to stratify patients based on a prediction of their future medical needs. But, how good is this promise; especially if patients are being followed up to see if these medical needs emerge? Is it the same as the promise that was made to the Swedes when the PKU registry was established?
What happens if that database is illegally accessed and the data offered for sale? Do we trust insurance companies to say, “Oh no, I don’t want access to data that could make us richer!”
Insurance companies, drug companies, etc. fund much of the medical research conducted in this country. How much access will they have to this data simply by virtue of their status as a funder? Can we really trust them to maintain data security and privacy, especially when doing so is in contravention to their own interests? This may prove especially true when the research funds run out and the researchers need more money.
If Precision Medicine is the future, what does the public availability of your DNA mean for you? Will you be required to contribute your DNA to a public database to be insured? If you contribute, will your privacy be maintained? If your genetics predict your medical future and your future doesn’t look good, can insurance companies refuse to insure you? Can they refuse to pay claims on genetic defects that may or may not result in some disease in the future?
Precision medicine is no longer the stuff of science fiction or articles by futurists. Addressing these issues now seems like a worthwhile endeavor.