The Complications Facing Precision Medicine

Earlier this year, President Obama announced the $215 million Precision Medicine Initiative which will “provide clinicians with new tools, knowledge, and therapies to select which treatments will work best for which patients” [1]. Taking into account individual genetic, environmental, and lifestyle differences, precision medicine aims to create personalized solutions to diseases afflicting patients in the 21st century. The initiative funds a balanced approach to advance precision medicine by developing a national research cohort of over one million volunteers, identifying genomic drivers of cancers, establishing high quality databases, and addressing privacy and data security. While the near-term goal is to intensify efforts in applying precision medicine to cancers, the initiative intends to extend the approach to various diseases.

For the most part, medicine currently maintains a “one-size-fits-all” approach, resulting in heterogeneous efficacy. But in the era of big data, researchers have the means to sharpen and tailor therapeutic strategies to match patient needs. As NIH Director Dr. Francis Collins notes, the prospect of applying precision medicine has greatly improved in the advent of large-scale biologic databases (such as the human genome sequence), powerful methods of characterizing patients (such as proteomics, metabolomics, genomics, and other technologies), and computational tools for analyzing large datasets [2]. Collins also emphasizes that cancer is a “clear choice for enhancing the near-term impact of precision medicine” due to the molecular and genomic signatures characteristic of cancers.

Although additional funding is always welcomed in the scientific community, President Obama’s Precision Medicine Initiative raises many questions about the effectiveness, feasibility, and big data ethics that come along with precision medicine.

Value of genetic information

Dr. Michael Joyner, an anesthesiologist and physiologist at Mayo Clinic, does not believe precision medicine will make us healthier [3]. Despite being armed with information on hundreds of genetic risk variants with small effects, clinicians may not be able to provide effective, tailored therapeutic strategies because the predictive power of these variants is often low. Joyner cites previous failed attempts at employing genetic information in clinical situations such as warfarin dosage and experimental cystic fibrosis drugs. Furthermore, the ability of tumors to mutate and circumvent precision therapies remain an obstacle in cancer research.

Joyner believes that controlling people’s environment and behavior is more effective than fighting a “biological destiny”. While cancer research has shed much light on cancer biology and potential therapeutics, researchers are far from finding a rigorous solution to cancer. However, public health campaigns such as tobacco control have yielded observable results – lung cancer incidences in the US decreased significantly in both men (2.4% per year) and women (0.7% per year) between 2001 and 2010 [4].

Learning curve facing clinicians

Due to the rapidly changing and complex nature of the field of genetics, doctors may not be qualified to make sense of genetic tests or be able to communicate the results accurately to patients [5]. Not only have there been cases of misdiagnoses of genetic conditions, but patients also sometimes undergo dangerous and unnecessary medical procedures such as invasive surgeries.

Two fundamental reasons explain the lack of genetics expertise among practicing doctors. Many of them went to medical school before the human genome was sequenced, and they cannot keep up with the pace of genetics research [5]. Also, due to the dearth of qualified medical geneticists, many doctors are forced to receive instruction on genetic tests from testing companies, the very ones that aggressively push products without rigorous testing.

Data processing and storage

While researchers can now sequence a half dozen human genomes in about 10 days, current computing power and data storage cannot keep up with this “DNA data deluge” [6]. Even with the best algorithms and data structures, many computers are needed to divvy up the work of parsing a genome. Moreover, all the sequencing instruments in labs and hospitals around the world combined can sequence 15 quadrillion nucleotides per year, resulting in 15 petabytes of compressed genetic data. “To put this into perspective, if you were to write this data on standard DVDs, the resulting stack would be more than 2 miles tall,” explain computational biologists Michael Schatz and Ben Langmead.

Privacy and culture

In the 21st century, protecting people’s information is integral. Dr. Kirti A. Patel, a practicing women’s health physician, is concerned with inevitable data privacy issues accompanying precision medicine [7]. Genetic-testing company 23andMe’s Personal Genome Service – now banned by the FDA for genetic tests outside of Bloom Syndrome [8] – provided a glimpse of controversy into genetic data. 23andMe reserves the right to use customers’ personal information – including their genetics – for business purposes, and it may be possible for pharmaceutical and insurance companies to sell or deny products to consumers based on genetic information [9]. Although 23andMe insists that personal genetic information will not be sold without explicit consent, many companies handling consumer data are notorious for repeatedly making slight legal adjustments over several years. Patel warns that companies may abuse genetic information and deny insurance coverage or jobs, leading to “a different kind of racism, on a genetic basis.”

Precision medicine is not merely another field of research or cure. It is an entirely new approach to clinical medicine, which is why the Precision Medicine Initiative must be cautious in advancing its goals. The initiative invests in the Office of the National Coordinator for Health Information Technology (ONC) to ensure data privacy and security, but a mere $5 million may not be enough. If precision medicine is to truly become a revolutionary advancement in medicine, greater investment is needed to address the level of genetic expertise among future doctors, the power of computing to process genomic data, and the legal regulations regarding privacy and use of personal genomic data.

References:

  1. “FACT SHEET: President Obama’s Precision Medicine Initiative.” Whitehouse.gov. 30 Jan. 2015. Web. <https://www.whitehouse.gov/the-press-office/2015/01/30/fact-sheet-president-obama-s-precision-medicine-initiative>.
  2. Collins, Francis S. “A New Initiative on Precision Medicine.” New England Journal of Medicine 372 (2015): 793-95. 26 Feb. 2015. <http://www.nejm.org/doi/full/10.1056/NEJMp1500523?query=featured_home&&>.
  3. Joyner, Michael J. “‘Moonshot’ Medicine Will Let Us Down.” The New York Times. The New York Times, 29 Jan. 2015. <http://www.nytimes.com/2015/01/29/opinion/moonshot-medicine-will-let-us-down.html?_r=1&module=ArrowsNav&contentCollection=Opinion&action=keypress®ion=FixedLeft&pgtype=article>.
  4. “Lung Cancer Trends.” cdc.gov. <http://www.cdc.gov/cancer/lung/statistics/trends.htm>.
  5. Graber, Cynthia. “The Problem With Precision Medicine.” The New Yorker. <http://www.newyorker.com/tech/elements/problem-precision-medicine>.
  6. Schatz, Michael C., and Ben Langmead. “The DNA Data Deluge.” IEEE Spectrum. 27 June 2013. <http://spectrum.ieee.org/biomedical/devices/the-dna-data-deluge>.
  7. Patel, Kirti. “Precision Medicine: Pros & Cons.” 01 Feb. 2015. <https://medium.com/@kirtipatelmd/precision-medicine-blessing-or-curse-8722c3ae94cb>.
  8. Hof, Robert. “In Big Shift, FDA Plans To Let 23andMe Market Genetic Tests To Consumers.” Forbes. Forbes Magazine, 19 Feb. 2015. <http://www.forbes.com/sites/roberthof/2015/02/19/in-big-shift-fda-plans-to-let-23andme-market-genetic-tests-to-consumers/>.
  9. Seifi, Charles. “23andMe Is Terrifying, but Not for the Reasons the FDA Thinks.” Scientific American. 27 Nov. 2013. <http://www.scientificamerican.com/article/23andme-is-terrifying-but-not-for-reasons-fda/>.

Image References:

  1. http://www.nih.gov/sites/default/files/styles/floated_media_breakpoint-medium/public/research-training/initiatives/pmi/pmi-infographic-screenshot-cropped_0.jpg?itok=UNgLpbbB&timestamp=1444920603

Alfred Chin is the International Editor-in-Chief of The Triple Helix. As a sophomore majoring in Biophysics and Neuroscience at Johns Hopkins University, Alfred is passionate about biomedical research. He intends to pursue an MD/PhD after graduation and conduct research on therapeutics for neurodegenerative diseases.

Follow The Triple Helix Online on Twitter and join us on Facebook.

You May Also Like