Open Innovation Leads to an Understanding of the Building Blocks of Humanity
Genome sharing through an open information sharing platform presents an unprecedented opportunity for the future precision of medicine and health for the worldwide community
“Genome sharing is humanity’s next radical collaboration,” proclaimed Dr. David Haussler, scientific director of the UC Santa Cruz Genomics Institute, and early contributor to The Genome Project.
The Genome Project was a $3 billion, 15-year long international scientific research initiative with the goal of sequencing and identifying all three billion chemical units in the human genetic set, finding the genetic roots of disease, and then developing appropriate treatments. Widespread international cooperation paired with advances in the field of genomics and computing technology led to a published “rough draft” of the human genome on June 26, 2000 with subsequent updated publications in later years.[1] The project formally concluded in 2003 and represents the world’s largest collaborative biological project to date.[2]
The benefits of genome mapping are vast and span a plethora of applications, including a better understanding and identification of diseases; design of medications and more accurate prediction of their effects; advancement in forensic applied sciences; biofuels and other energy applications; and agriculture.[3]
These benefits can only occur when sequenced genomes are made available to researchers and end users via a shared platform. By accessing the human genome database, a user can review what other scientists have written about a particular gene, including its function(s), its evolutionary relationships to other human genes, possible detrimental mutations, interactions with other genes, body tissues in which this gene is activated, and diseases associated with this gene.[4] This open information sharing platform presents an unprecedented opportunity for the future precision of medicine and health.
The importance of an open source channel for accessing this data cannot be overstated; as the database grows, the volume of insights that can be derived increases exponentially. While The Genome Project has formally concluded, many organizations are working to continue further data collection and maintain public access to this data for continued learning. The Harvard Personal Genome Project (Harvard PGP) is one such initiative that has facilitated the collection of biological samples from an additional 5,000 participants to date.[5]
As the Harvard PGP seeks to expand the sample size and ensure public accessibility, some key factors must be considered for long term sustainability. A key short-term issue lies in mitigating privacy and security concerns for individuals who contribute their genetic data. Understanding the connection between an individual’s traits and their genetic data is critical to ensuring accurate scientific understanding of the data, therefore anonymity of the individual contributors cannot be guaranteed. Harvard PGP works diligently to educate contributors on the implications of making their data public and to articulate the valuable and lasting contribution to science and humanity that ensues.[5]
Additionally, an ongoing dialogue exists to convince the whole health community of the benefits of sharing, as several private organizations have identified economic benefits from proprietary knowledge of the data and challenge the efforts to maintain public sharing.[6]
In the long-term, Harvard PGP is also working to develop a model system for collaboration between experts in the field of health care, public health, law, and education to maximize the possible applications outside of medicine. Another long-term priority of the Harvard PGP is to diversify the data set, as different populations have significant phenotypic variations. Medicines affect various populations differently, and the vast majority of the mapped genomes are from American and European contributors.[7] This disparity limits the opportunity to apply findings to the worldwide community, and increases the risk of mistreatment for underrepresented populations in the mapped genome sample.
Additional issues that these initiatives need to address in the short and medium terms are removing barriers for data contributors by facilitating simple collection procedures, accelerating cost reductions for genome mapping, and making the shared database more user-friendly.
Lastly, important open questions remain with respect to the ethical dilemmas surrounding human genome sequencing. Could certain genomes be considered superior than others, and will that promote genetic “underclasses”? Could widespread genetic discrimination result from employers and insurance companies? Will these technologies lead to embryonic intervention such as elective abortions or gene editing? If embryonic gene editing does result, should it be limited to life-threatening health conditions, or superficial physical characteristics such as height?
While these social and ethical challenges exist, as a society we have to weigh the benefits against the potential perverse incentives and decide how to provide regulatory frameworks to mitigate them effectively.
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1 The White House, Office of the Press Secretary, “The Human Genome Project: Benefiting all Humanity,” https://clintonwhitehouse4.archives.gov/textonly/WH/new/html/20000315_3.html, accessed November 2018.
2 Simon Tripp, “Economic Impact of the Human Genome Project,” May 2011, https://www.battelle.org/docs/default-source/misc/battelle-2011-misc-economic-impact-human-genome-project.pdf, accessed November 2018.
3 National Human Genome Research Institute, “All About The Human Genome Project,” https://www.genome.gov/10001772/all-about-the–human-genome-project-hgp/, accessed November 2018.
4 Michael Snyder, “Personal Genome Sequencing: Current Approaches and Challenges,” http://genesdev.cshlp.org/content/24/5/423, accessed November 2018.
5 The Harvard Personal Genome Project, “About,” https://pgp.med.harvard.edu/about, accessed November 2018.
6 John Sulston, “The Common Thread: A Story of Science, Politics, Ethics and the Human Genome,” October 2002, accessed November 2018.
7 National Human Genome Research Institute, “Genomics in Africa,” https://www.genome.gov/27561240/genomics-in-africa/, accessed November 2018.
Thank you for sharing this excellent submission. While I too believe mapping the human genome unlocks incredible potential, I also believe we should all be very worried about the ethical considerations that come with us dictating our genetic make up. While a simple issue may seem to pass legislation limiting the edits to the genome that can be made, this may be very difficult to enforce, especially because there is no international governing body with jurisdiction. While mapping the genome is a major scientific advancement, the ethical concerns around gene editing are significant and merit additional thought.
https://www.washingtonpost.com/news/theworldpost/wp/2017/12/12/bioethics/?noredirect=on&utm_term=.511c2d7fbf2e
I believe the questions you (and Kentucky Fried Chicken) raised will be some of the biggest moral questions we have to answer in our lifetimes. I personally don’t believe in altering characteristics such as eye color and worry about the discrimination issues that you raise, as well as how we will go about determining which alterations are allowable versus which ones aren’t.
I think you raise a really important point about ensuring that the crowdsourced data represents a diverse population. This is a great example of how open innovation can be extremely beneficial but relies critically on the quality of its inputs. In this case, quality refers to a large enough volume of diverse individuals’ data in order to improve the accuracy and relevance of the research.
AJB, while i agree with your comments, please note my name is Kentucky “Freud” Chicken not Fried Chicken. I would not want to be confused with the Colonel Sanders.
I stand corrected. My apologies, Kentucky Freud Chicken!
The Genome Project is a tremendous opportunity for innovation in precision medicine and for research into understanding human health within the context of the whole person. However, this does raise several critical issues surrounding privacy and ethics. To your point, contributors to The Genome Project are made aware of the implications of their decision; however, this information could potentially be used to identify individuals, and while the contributors may have agreed to this, their families and descendants may not be willing to make this information available to the world. As they share genes with this individual, these people are relevant stakeholders, and yet they may not have a choice in the matter. This decision then continues to affect the family for generations to come.
In the near term, as long as the researchers make a reasonable effort to preserve the anonymity of the data collected and commit to this project’s scientific integrity, I do not see genetic discrimination becoming an issue.
I am very much in support of leveraging more data in making better decisions, whether in the healthcare sector, clothing etc. However, aside from the ethical ramifications, I also wonder about how nuanced factors such as diet, geographical location, socio-economic status, etc are factored into data analyzed from genetic formations. Specifically, what if a certain disease in a person is caused by the individual’s decision to pursue a certain lifestyle, versus having a particular genetic composition? In that scenario, viewing simply the genome sequence in isolation might lead to inaccurate conclusions. This might be something that has been already addressed by the scientists behind this research, but if not…I would be very worried.