The Precision Medicine Initiative: What is it and should I care?

Precision medicine is rapidly becoming the focal point of modern medicine. Rather than using a ‘one size fits all’ approach based solely on past treatments for diseases, healthcare workers can now utilize new techniques to personalize medical treatment to the patients. And what’s the best way to personalize your care? Your DNA [3]. DNA is individual to each person, medical techniques can be studied and altered in a way that would take this individuality into account. All of this sounds great, and in many ways it is, but in order to achieve any sort of understanding about how our DNA responds to medicine, genetic testing needs to be conducted.

Genetic research is complicated. DNA is a very accurate personal identifier. Concerns about the ethics of genetic research are copious and nuanced. Researchers need to consider the effects their findings might have on the subjects’ mental health, familial relationships, decision to have children, life insurance, and even employment. On top of that, collecting enough samples from a population, usually a fairly specific population (ex. Women of Native American descent ages twenty to forty), can be expensive, time consuming, or nearly impossible, because of either limited access or distrust of the healthcare system due to a history of inequity and mistreatment in medical institutions.

To help overcome some of these obstacles and allow for precision medicine techniques to develop, the United States started the Precision Medicine Initiative. The goal being to help researchers work towards developing these new medical approaches within the country [1]. One of the major components of this initiative is the creation of a biobank. A biobank is a large collection of samples, in this case DNA samples, that are all stored and labeled together that researchers can be granted access to [4]. Many times patients donating these samples consent for their data to be used in a variety of projects, decreasing the number of consent forms the researcher may have to obtain since they can have access to already consented to samples. In the case of the Precision Medicine Initiative, they collect and store both health and personal history as well as DNA. Instead of having to collect a whole new set on their own, Researchers can be approved and granted access to these samples in order to conduct their research, making the process more efficient.

Of course, in order for this to work, Americans actually need to donate samples. Americans of all ethnicities, classes, and health levels need to be both aware of the initiative. This is in part why The National Institutes of Health gave it a second name: All of Us [2]. The use of the new title in advertising was an attempt to circumvent the fact that many Americans may not know what precision medicine is.

Participation in All of Us requires the donation of a lot of personal information. Such information is necessary for researchers to make accurate claims about their findings. However, due to the nature of this information, a lot of precautions need to be considered to protect the participants' data. One thing All of Us needs to consider is their privacy policies for data collection. Their security system encrypts all data and stores the keys in a separate system. They remove identifying information like name and address in an attempt to keep the samples as anonymous as possible [5]. They also have an access policy designed to ensure only vetted researchers have access to the samples [1]. Applicants go through ethics training, their procedures face review, and they have to sign many conduct contracts. The way they access and share the data is monitored, and the organizations seeking access must also have their own up to code data security system [5]. Even with all the safeguards, patients will still have to fill out a lengthy consent form and ensure they fully understand all the ins and outs of donating a sample.

Precision medicine is soon to be the gold standard for doctors, The Precision Medicine Initiative or All of Us, is extremely beneficial to American researchers in helping them refine techniques. The initiative has even created a database of information about the COVID-19 pandemic [6]. The more Americans know and understand about this biobank and its goals, the bigger it can grow and the more people it can help.

Edited By: Sam Shi

Graphic Designed By: Eugene Cho

References

[1]https://obamawhitehouse.archives.gov/precision-medicine

[2]https://allofus.nih.gov

[3]https://healthitanalytics.com/features/what-are-precision-medicine-and-personalized-medicine

[4]https://www.mayo.edu/research/documents/introduction-pamphlet-16kb-pdf/DOC-10027365

[5]https://www.joinallofus.org/privacy-safeguards#

[6]https://allofus.nih.gov/news-events-and-media/announcements/all-us-releases-initial-covid-19-survey-data-researchers

The Ethics & Potential of Pharmacogenomics

Prescription drugs are a vital component of treatment plans for complications and illnesses of all kinds; so much so that in surveys conducted by the CDC in 2015-2018, about half of all adults in the United States had used at least one prescription drug in the previous 30 days [1]. Treatment plans already imply some degree of individualization; medicine isn’t, and has never been, one-size-fits-all. Thus, pharmacogenomics aims to answer the question of how individual differences in the cellular mechanisms that respond to drug therapies affects the performance of those therapies.

When it comes to health, DNA matters— many diseases and illnesses have underlying genetic factors. Single nucleotide polymorphisms (SNPs) in the genetic code can decrease responsiveness to a drug. Clopidogrel is a drug that is metabolized by a specific enzyme called CYP2C19 [2]. If a mutation in an individual’s gene sequence causes this enzyme to function less efficiently than it should, then clopidogrel is also likely to not work as well as a drug therapy for that individual. Of course, there’s extensive variety in the actual dynamics of drug metabolism, but this concept explains the merit in custom-tailoring treatment plans down to the cellular level. When healthcare is as costly as it is in the United States, it’s necessary to ensure that drug therapies will actually work.

At the start of the process, patients must undergo genetic testing, which in and of itself presents some initial challenges. The cost of pharmacogenomic testing is in the ballpark of a few thousand dollars [3], which is a high initial investment for what is, in effect, a prerequisite for treatment. Private health insurance companies in particular have murky policies regarding this kind of testing [4], thus there is a sizable chance that costs may be paid out-of-pocket. This is an immediate barrier that limits the viability of this field to those who can afford to take that chance.

Even after pharmacogenomic test results are obtained, patients and providers face further ethical dilemmas stemming from the larger debate around clinical applications of genetics. Genetic discrimination becomes a problem when a patient’s private health information is shared with insurance companies who may refuse to take on the cost of a potentially extensive treatment plan, or even raise the amount that patients pay [2]. While the Genetic Information Nondiscrimination Act was passed in 2008 to limit such injustices [5], it goes to show that policies to protect patients in this regard are still very much in development.

Genetic testing also doesn’t just accomplish the goal of identifying altered drug-relevant pathways, but it may also coincidentally happen upon other illnesses or predispositions a patient may have [6]. This opens a metaphorical Pandora’s Box that stretches further than simply whether a patient is an ideal fit for a medication. If the potential for future disease is found within an individual’s genes, how can providers balance the responsibility of protecting patient privacy with the responsibility of informing that individual’s relatives of their potential risk?

Many of the risks associated with the pharmacogenomic approach to drug therapy are part of the debate around clinical and diagnostic genetics in general. While there are many uncertainties and unknowns in pharmacogenomics, it has at the very least shown some efficacy when it comes to the personalization of healthcare [7]. This is enough to cement pharmacogenomics as a worthy focus.

Edited by: Olivia Ares

Graphic Designed By: Aj Kochuba

References

[1] “FASTSTATS - Therapeutic Drug Use.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 20 Oct. 2021, https://www.cdc.gov/nchs/fastats/drug-use-therapeutic.htm.

[2] Marcus Silva, PharmD Candidate. “Ethical Issues in Pharmacogenomics.” Pharmacy Times, https://www.pharmacytimes.com/view/ethical-issues-in-pharmacogenomics.

[3] Groessl, Erik J., et al. “Cost-Effectiveness of a Pharmacogenetic Test to Guide Treatment for Major Depressive Disorder.” Journal of Managed Care & Specialty Pharmacy, vol. 24, no. 8, 2018, pp. 726–734., https://doi.org/10.18553/jmcp.2018.24.8.726.

[4] Park, Sharon K., et al. “Coverage of Pharmacogenetic Tests by Private Health Insurance Companies.” Journal of the American Pharmacists Association, vol. 60, no. 2, 2020, https://doi.org/10.1016/j.japh.2019.10.003.

[5] “The Genetic Information Nondiscrimination Act of 2008.” U.S. Equal Employment Opportunity Commission, https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008.

[6] Erdmann, A., Rehmann-Sutter, C. & Bozzaro, C. Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis. BMC Med Ethics 22, 116 (2021). https://doi.org/10.1186/s12910-021-00682-8

[7] Hayashi, Meagan, et al. “Applications for Pharmacogenomics in Pharmacy Practice: A Scoping Review.” Research in Social and Administrative Pharmacy, 2021, https://doi.org/10.1016/j.sapharm.2021.08.009.

Ethics of Precision Medicine and the Disabled Community

Precision medicine has been a promising strategy to help eliminate disparities in healthcare involving race, ethnicity and gender. By providing patients with custom healthcare that focuses on their genetics, lifestyle and environment, treatments can become more effective by taking into account individual differences in health.

Despite the fact that there has been an ongoing initiative to assure proper treatment of racial and ethnic groups when dealing with precision medicine, there has been a noticeable lack of research regarding one minority group in particular: persons with disabilities. Considering that 26% of adults in the US have a disability [1], it is imperative to conduct sufficient research with persons with disabilities and include them in the ethical debate of precision medicine. There are several justifications for why people with disabilities need to be included in these conversations. Firstly, there are several disabilities with “genetic underpinnings” in which precision medicine can be employed so that the patient is receiving the best personalized care [2]. Additionally, people with disabilities are more susceptible to certain diseases than others; for instance, the risks of breast and lung cancers among schizophrenia patients are much higher compared to the general population [3].

Despite these justifications, there are hurdles when attempting to include the disabled community in precision medicine. First and foremost, there could be challenges in obtaining the patient’s informed consent, especially when dealing with people who have an intellectual disability. Additionally, researchers often do not know how to design certain studies that contain formats accessible to disabled persons [4]. There are also social determinants that create barriers to healthcare. Lastly, patients with disabilities may be less inclined to attend research meetings that do not lead to immediate results, as they are already more likely to miss pre-existing appointments, compared to non-disabled patients, due to cost and transportation issues [5]. The increased lack of internet access among the disabled community also poses a problem, as this could be a useful outlet to conduct the necessary research [6].

Inclusion of persons with disabilities is a necessity in precision medicine. The solution to this problem is still unclear, as the barriers laid out need to be solved in order to assure the safe inclusion of disabled people in this community. Until these issues are met, it can be argued that it is safer for the disabled community to refrain from engaging in research. Prematurely doing so could lead to even larger health disparities involving this group. Therefore, we must work together and find a way to solve these problems in order to begin their inclusion in precision medicine research.

Edited by: Min Ju Lee

Graphic Designed by: Sibani Ram

References:

[1] CDC. "Disability Impacts All of Us." Centers for Disease Control and Prevention, 17 June 2021, www.cdc.gov/ncbddd/disabilityandhealth/infographic-disability-impacts-all.html. Accessed 27 Feb. 2022.

[2] Sabatello, M. Precision medicine, health disparities, and ethics: the case for disability inclusion. Genet Med 20, 397–399 (2018). https://doi.org/10.1038/gim.2017.120

[3] Wisdom JP, McGee MG, Horner-Johnson W, Michael YL, Adams E, Berlin M . Health disparities between women with and without disabilities: a review of the research. Soc Work Public Health2010;25:368–386.

[4] Williams AS, Moore SM . Universal design of research: inclusion of persons with disabilities in mainstream biomedical studies. Sci Transl Med2011;3:82cm12.

[5] Krahn GL, Walker DK, Correa-De-Araujo R . Persons with disabilities as an unrecognized health disparity population. Am J Public Health2015;105(suppl 2):S198–206.

[6] Krahn GL, Walker DK, Correa-De-Araujo R . Persons with disabilities as an unrecognized health disparity population. Am J Public Health2015;105(suppl 2):S198–206.