United States: A Primer On Precision Medicine: The Legal And Ethical Considerations Faced By Modern Medicine's New Frontier

Last Updated: April 5 2018
Article by Elizabeth Scarola

The National Institutes of Health (NIH) defines "precision medicine" as

[A]n emerging health care model for disease treatment and prevention strategies that takes into account each person's genetic variations, environment and lifestyle.1

Precision medicine was thrust into the national conversation in 2015 when President Obama announced a $215 million U.S. funding commitment known as the Precision Medicine Initiative (PMI).2 In President Obama's words, the goal of precision medicine is to provide clinicians with new tools, knowledge, and therapies that will enable them to select "the right treatments, at the right time, every time to the right person."3

PMI drastically expanded precision medicine's presence in scientific research. As evidence, later this year, the PMI cohort program, "All of Us," will begin enrolling participants in a million person data set of genetic, lifestyle, and health information for further study of the interaction of genetics, environment, and lifestyle.4

Though scientists disagree about the extent to which precision medicine will translate into genuine improvements in health care delivery, even the most skeptical of experts cannot deny recent advancements in genetic testing and targeted therapeutics.5

Genetic Testing

Laboratories across the world assess risk and diagnose disease by analyzing genomes.6 The advent of 23and Me and other direct-to-consumer genetic testing products permit patients from their homes and personal computers to identify and assess their unique risk of developing disease.7

Although early genetic tests were developed to detect rare, relatively straightforward single-gene variations that were highly correlated with specific diseases, today's genetic tests (e.g., next generation sequencing (NGS)) are able to detect a wide range of genetic variants from a single sample.8 NGS allows scientists to identify more common, complex diseases and provides patients information to assess their individual risk of developing a myriad of diseases.9 In 2018, a single laboratory can sequence an entire human genome in less than 24 hours for just under $1,000.10 For less than $200, 23andMe offers consumers "genetic health risk reports" that detect variants related to late-onset Alzheimer's disease, Parkinson's disease, alpha-1 antitrypsin deficiency, celiac disease, hereditary hemochromatosis, hereditary thrombophilia, and age-related macular degeneration.11

Targeted Therapeutics

Even more astounding is that scientists can now offer certain patients targeted treatments for a variety of illnesses and conditions.12 These targeted therapeutics provide medicines specified to treat individual genetic mutations with exactitude.13 The Food and Drug Administration (FDA) has approved a number of these medications.14 To name a few, targeted therapeutics are now made available for certain breast cancers, melanomas, colorectal cancers, leukemias, lymphomas, ovarian cancers, pancreatic cancers, rheumatoid arthritis, and lupus conditions.15

In addition, recent advances in Clustered Regularly Interspersed Short Tandem Repeat (CRISPR) technology now allow scientists to artificially alter genes; the promise of CRISPR technology knows no bounds.16

Precision medicine's emergence in modern day medicine is here; and, the potential that the field offers is vast. However, its promise must manifest itself within our current legal and regulatory system; and, as every health care attorney knows, innovation is often fraught with complex and sometimes novel legal and regulatory barriers.

Pre-Market Approval and Clinical Oversight: FDA and CMS

[T]he FDA is currently finding its regulatory foothold during [this] transition in the practice of medicine.17

Two federal regulatory agencies currently oversee the development of genetic diagnostic tests and targeted therapeutics: the FDA and the Centers for Medicare & Medicaid Services (CMS).

The FDA is responsible for protecting and promoting public health by assuring "the safety, effectiveness, [and] quality" of medical drugs and devices by the authority granted to it under the Federal Food, Drug and Cosmetic Act (FDCA) and the Medical Device Amendments of 1976.18 Consequently, the FDA is a gatekeeper to advances in precision medicine.

For example, the FDA regulates in vitro diagnostic tests (IVDs) as a subset of medical devices.19 FDA approval of medical devices typically requires analytical and clinical validation.20 In the case of IVDs, manufacturers must prove that an IVD can (1) accurately identify a sample (i.e., accurately read a specific set of DNA bases in the human genome) and (2) link particular genetic variants to specific diseases (i.e., provide meaningful clinical information).21 Though this regulatory threshold seems simple enough, a narrow interpretation of the pre-market approval regulatory framework could lead to an unintended absurdity: namely that because the FDA typically bases its pre-market approval decision on evidence dependent upon large, randomized clinical trials, the FDA could arguably require separate analytical studies to prove the analytical and clinical validation of each of the many billion nucleotides in the human genome.22


1 Nat'l Insts. of Health, Precision Medicine (Jan. 11, 2018), available at http://ghr.nlm.nih.gov/handbook/precisionmedicine?show=all.

2 Dianne Nicol, Tania Bubela, Don Chalmers, et. al., Precision medicine: drowning in a regulatory soup?, J. Law and the Biosciences (May 4, 2016), available at https://www.researchgate.net/profile/Jennifer_Fleming4/publication/301913566_Precision_Medicine_Drowning_in_a_Regulatory_Soup/links/572ff82e08aee022975b7023/Precision-Medicine-Drowning-in-a-Regulatory-Soup.pdf.

3 Remarks by the President on Precision Medicine (Jan. 30, 2015), available at https://obamawhitehouse.archives.gov/the-press-office/2015/01/30/remarks-president-precision-medicine.

4 The Precision Medicine Initiative Cohort Program—Building a Research Foundation for 21st Century Medicine (Sept. 17, 2015), available at https://www.nih.gov/sites/default/files/research-training/initiatives/pmi/pmi-working-group-report-20150917-2.pdf.

5 Richard Harris, Will Gathering Vast Troves of Information Really Lead to Better Health?, NPR (Dec. 28, 2017), available at https://www.npr.org/sections/health-shots/2017/12/28/572677879/will-gathering-vast-troves-of-information-really-lead-to-better-health.

6 Id.

7 George J. Annas and Sherman Elias, 23andMe and the FDA, N. Eng. J. Med. (Mar. 13, 2014), available at http://www.nejm.org/doi/full/10.1056/nejmp1316367.

8 Francis S. Collins & Margaret A. Hamburg, First FDA Authorization for Next-Generation Sequencer, 369 N. Eng. J. Med. 2369, 2369 (2013), available at http://www.nejm.org/doi/full/10.1056/NEJMp1314561.

9 Francis S. Collins & Harold Varmus, A New Initiative on Precision Medicine, 372 N. Eng. J. Med. 793 (2015), available at http://www.nejm.org/doi/full/10.1056/NEJMp1500523.

10 Peter Dockrill, You Can Now Sequence Your Entire Genome For Under $1,000 (Mar. 9, 2016), available at https://www.sciencealert.com/you-can-now-sequence-your-entire-genome-for-under-1-000.

11 23andMe Genetic Health Risk Reports: What you should know, available at https://www.23andme.com/test-info/genetic-health/.

12 Hait, William N., Targeted cancer therapeutics, Cancer research69.4 (2009): 1263-1267, available at https://www.ncbi.nlm.nih.gov/pubmed/19208830.

13 Id.

14 Examples of FDA-approved drugs tailored to individuals with specific molecular profiles include Imanitib, Dasatinib, Nilotinib, Bosutinib, Pontatinib, Erlotinib, Afatinib, T ramatenib, Crizotinib, Cetuximab, etc. See generally Overview of Targeted Therapies for Cancer, available athttps://www.mycancergenome.org/content/molecular-medicine/overview-of-targeted-therapies-for-cancer/. .

15 Id.

16 Cong, Le, et al. Multiplex genome engineering using CRISPR/Cas systems, Science 339.6121 (2013): 819-823, available at https://www.ncbi.nlm.nih.gov/pubmed/23287718.

17 Kwon, Sarah Y., Regulating Personalized Medicine, Berkeley Tech. L.J. 31 (2016): 931, available at https://scholarship.law.berkeley.edu/cgi/viewcontent.cgi?referer=https://www.google.com/&httpsredir=1&article=2129&context=btlj.

18 U.S. Food & Drug Admin., FDA Fundamentals, available at http:///www.fda.gov/AboutFDA/Transparecy/Basics/ucm192695.htm.

19 FDCA defines IVDs as "an instrument, apparatus, implement, machine, contrivance, implant, in vitro reagent, or other similar or related article, including a component part, or accessory which is . . . intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease." 21 U.S.C. § 321 (h)(2)(2012). See U.S. Food & Drug Admin., Draft Guidance for Industry, Clinical Laboratories, and FDA Staff: Framework for Regulatory Oversight of Laboratory Developed Tests (LDTs) 5 (Oct. 3, 2014), available at http://www.fda.gov/downloads/medical-devices/deviceregulationandguidance/guidancedocuments/ucm416685.pdf.

20 21 U.S.C. ch. 9 § 301 et seq.

21 Olsen, Dana, and Jan Trøst Jørgensen, Companion diagnostics for targeted cancer drugs–clinical and regulatory aspects, Frontiers inoncology 4 (2014), available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032883/.

22 Lander, Eric S, Cutting the Gordian helix—regulating genomic testing in the era of precision medicine, N. Engl. J. Med. 372.13 (2015): 1185-1186, available at http://www.nejm.org/doi/full/10.1056/NEJMp1501964.

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