With the rise of cheap and rapid gene sequencing techniques, personalized medicine has taken the spotlight in discussions about health care of the future. Personalized medicine describes the tailoring of medical treatment to fit the individual characteristics of each patient. It takes into account a patient’s specific gene profile or a distinctive set of biomarkers he expresses. Doctors can use the patient’s individual biological data to personalize his treatment plan.
Cancer patients especially stand to benefit from this personalization. Genetic testing can reveal polymorphisms for several key enzymes responsible for drug metabolism. This practice is called pharmacogenomics, and it enables doctors to adjust the dose of a chemotherapy drug according to how the patient expresses a specific enzyme, improving the drug’s efficacy. The data will also help doctors avoid drugs that may cause severe toxicity in patients who may not be able to metabolize certain medications well. The ultimate goal of personalized medicine is to optimize a patient’s treatment. While personalized medicine offers important advantages, it also poses several ethical issues that could change the face of modern health care delivery.
Advantages
Efficacy. Personalized medicine has rendered certain therapies far more efficient. One example is tamoxifen, a competitive inhibitor of the estrogen receptor that has been used to treat breast cancer since the 1970s. The drug’s efficacy varies based on the expression of gene CYP2D6, which encodes an enzyme responsible for metabolizing over a quarter of todays’ clinical drugs. After screening for women with a genotype expressing low levels of CPY2D6 and lowering their dosage, doctors were able to reduce the frequency and quantity of the drug prescribed. As a result, the patients experienced fewer side effects. With an algorithm to generate a better treatment regimen based on previous patient data, doctors did not need to determine the best treatment schedule by trial and error, saving their patients time and discomfort.
Long-term investment. In the future, newer and more powerful treatments could prove practical if they defray the heavy medical costs that come with long-term treatment. Even if the costs of personalized medicine are expensive today, we must weigh them against the benefits of avoiding the accumulation of costs over prolonged courses of treatment. One analysis estimates that diagnostic genomic tests for clinical trials of targeted therapies could save pharmaceutical companies $130 million per approved compound, dramatically reducing the costs of phases of drug development. A different report announced that Oncotype DX, a breast cancer test from the company Genomic Health, could screen out patients who would not benefit from treatment and thereby save $1,900 in reduced chemotherapy usage per patient tested.
Ethical Issues
Genetic treatment “orphans.” To recuperate development costs, pharmaceutical companies will target new medications for the most prevalent and most drug-responsive genotypes. Entire portions of the population could be left out of new research endeavors as enterprise efforts favor the genotypes that hold the most potential for profit. Without strong laws, many groups risk becoming therapeutic orphans. Should personalized medicine have the power to dictate the allocation of resources in a health care system?
Burden of truth. If a doctor orders a genetic test for a patient and finds a medication that will effectively treat her kidney disease, is the doctor also responsible for telling her she has a strong genetic disposition for breast cancer? Are there grounds for a lawsuit if the patient is not notified but then develops breast cancer in the future? Here the doctor weighs the responsibility of fully informing the patient about her test results against the costs of potentially unnecessary further testing and treatment as well as the emotional burden placed on patients. Under HIPAA law, patients have the right to access and request a copy of all medical records. However, certain health information may fall into the gray area subject to the Privacy Act by which it may not be accessible. Future policy must clarify how and when this information should be made available to patients.
Genetic discrimination by employers and insurance companies. Should health insurance companies be able to demand your genetic profile and use it to determine your insurance costs? For patients with genotypes more prone to disease and less responsive to certain treatments, these measures may raise their insurance prices and become another obstacle preventing them from receiving proper care. Under HIPAA, health records can be shared with insurers and doctors to coordinate treatment, but without patient authorization, they cannot be shared with employers. Insurers may use a patient’s genotype to restrict their treatment options or limit their coverage plans.
Misguided attention. How can we justify the use of personalized medicine, a costly effort with heavy time and resource demands, when millions of American citizens still lack adequate health care coverage? How can we proceed to fine-tune individual treatment plans when millions around the world still lack access to medical basics like vaccines and antibiotics? A major argument against the use of personalized medicine asserts that it invests too much money to treat too few people. Ivacaftor, a drug by Vertex Pharmaceuticals, is designed to treat the 5% of cystic fibrosis patients with a G551D mutation in the CFTR gene and costs a crushing $300,000 per patient per year — enough to otherwise afford 300 chest MRIs, 10 hip replacement surgeries or 16,000 azithromycin dose packs.
As personalized medicine develops, it is important to meet its ethical implications and progress with healthy scrutiny. With its use come the tangle of legal rights among insurers and patients, the shift in R&D incentives of drug companies, and the ethical dilemmas tied to genomic data. With the growth of the field into the next decade, future doctors need to be aware of its impact across the legal, financial and moral fronts of medicine.
Contributing Writer
Sidney Kimmel Medical College
Kelley Yuan is a student at Sidney Kimmel Medical College in Philadelphia, PA. She closely follows new advancements in drug delivery and surgical practice.