Huntington’s disease (HD) is notoriously deadly. No cure and high rates of heritability make it a death sentence not only for the individual diagnosed, but also for immediate family members. Huntington’s hides inside a person’s genotype, and generally expresses itself when a person reaches 30-50 years of age. It causes the loss of mental faculties and physical control, which progresses over 10-15 years until the weakened individual succumbs to death through complications. Under current regulations, it is the choice of the individual to get tested. Most people choose not to. They can make this choice because genetic testing is not a requirement for healthcare, public education, or government positions. But, what if genetic testing was required for all of this, and more?
The world of medication has always been a calculated gamble. Despite common misconceptions, not all patients benefit from the drugs that they are prescribed. Drugs work for people based on the information in their genetic code and without healthcare providers’ knowledge of a patient’s genetic code, it is a game of chance to see if a drug is compatible with a specific genotype to treat a certain disease. In the pharmaceutical world, the chances of a drug working for a particular person are referred to as the number needed to treat, or NNT. This number represents the number of people that need to take the drug in order for one person to see the intended benefit from that drug. In a perfect world, every drug would have an NNT of 1. In other words, everyone that took the drug would see the intended results. Unfortunately, it is not unusual to see drugs with NNTs in the triple or even quadruple digits. For example, of the 2,000 people at risk for heart attacks over the next two years who take aspirin every day as a preventative measure, only one individual will actually experience the preventative benefits of the medicine.
Under the present system, there are currently hundreds of thousands of people taking drugs that won’t do anything for their condition. In the context of a drug like aspirin, which is relatively inexpensive and exhibits few negative side effects, this may not seem problematic. However, many drugs that are more expensive and have a higher risk of damaging side effects still have high NNTs. For example, taking antibiotics for a radiologically diagnosed sinus infection has an NNT of 15. Fourteen out of every 15 people that take these antibiotics will see no benefit and will become slightly more immune to the antibiotics every time they are used to treat an illness. 1 in 8 people will also experience severe side effects to the antibiotics.
The solution seems obvious: If genes are the key to determining which medications will work for which individuals, why don’t we sequence the genomes of individuals? In the past 15 years, the cost of producing an entire human genome has gone from $20,000 to $1,000, making something that was once the subject of sci-fi novels a reality. This is also the answer President Barack Obama proposed during his State of the Union speech in January. The overall goal of the President’s Precision Medicine plan is to make medicine and healthcare more streamlined by using genes to eliminate medical waste. If we can sequence everyone’s unique DNA, doctors can tailor medications specifically to a patient’s genes. This not only means that the medication that an individual takes will be more effective, but lowers the risk of harmful side effects and makes it less likely that the individual will take medication that won’t work for him/her.
Over the past few weeks, Obama has released a comprehensive plan for the allocation of funds within what will ultimately be a $215 million investment in precision medicine. The breakdown of spending is as follows: $70 million to the National Cancer Institute to scale up efforts to identify genomic drivers in cancer and apply discoveries to more effective treatments; $10 million to the FDA to develop databases needed to store information about Precision Medicine; and 15 million to the Office of the National Coordinator (ONC) to develop standards and requirements to address privacy concerns. The National Institute of Health will spend the final $130 million on the creation of a database of genetic information. Initially, the database will hold the genetic data for over 1 million recruits as a part of the pilot phase of this program. However, the program has potent implications if it is enacted on a wider scale.
With these efforts to have genetic coding be the new norm in healthcare, it no longer seems farfetched that there may one day be a database of all of our genotypes. This could have a huge impact on individuals with a history of genetically inherited diseases. For example, if it was no longer optional for individuals with a family history of Huntington’s to get tested for the HD gene, it would become common place to deny health care or life insurance to these individuals based on their DNA. Our genotype consists of every piece of DNA that is in our body. Not every gene that is a part of our genotype is expressed. This is another way of saying that heredity is a game of probability. A certain gene increases the probability that an individual will display a certain behavior or symptoms of a certain disease. If knowledge about individual genomes was freely available, people would be denied all kind of opportunities based on the possibility that they would become sick or suffer from a mental illness. Imagine living in a world where one could be rejected from a public education because his or her DNA shows there is a chance of a schizophrenic episode during college.
Granted, participation in Obama’s genetic sequencing and databasing plan is completely voluntary and involves allocated funds to guarantee preservation of privacy and anonymity within the databasing of genetic information. Despite these precautions, similar technologies have been subject to a slow erosion of privacy protections in the past. Cell phones, for example, have become less and less private and more subject to government observation in the name of the “common good.” The Precision Medicine program is a huge step forward in terms of lowering health care costs and effective treatments. It takes full advantage of a new technology that can be used to save lives. However, it also has the possibility to ruin lives if the proper precautions are not put in place. It is thus necessary to take a pause at this moment in time, while this type of healthcare is still in its infancy, to discuss what safeguards will be put in place to ensure that our own genes cannot be used against us.