The ProjectEdit


The Personal Genome Project is a public genomics research study that aims to improve our understanding of genetic and environmental contributions to human traits. It is based on enrolling members of the public who are willing to share their genome sequence and other personal information such as health and medical data with the scientific community and the general public. is a charitable organization whose mission is to serve as both the pioneer and the global ambassador of emerging genomic technologies and knowledge that will positively impact the health and well-being of humankind.


The platform is run by Harvard Medical School and was initiated 2005 by George M. Church (genetics prof at HMS). It includes a growing number of participants who have donated their genomes (in the shape of tissue samples) for the study. George Church figures as the founder and principal investigator. He is collaborating with several faculty members of the Harvard Medical School on the PGP. The people involved in the PGP also include ELSI (ethical, legal and social issues) advisors and a Data Safety Monitoting Board.


  • 100 000 anonymous volunteers (ill/dead person tissues)

for now ~1300 registered,

  • U.S only nowadays but world-wide planned

willing to publicly share genetic, health and trait data

  • 21 years of age or older

United States citizen or permanent resident with a United States Permanent Resident Card

  • no personal benefit for participants, but travel grant available (travel to Boston)
  • Individuals interested in volunteering to become a participant should not be hesitant about knowing and publicly sharing any part of their genomic, health, or medical data
  • Volunteers also need to recognize that learning about their own genome implicates family members to various degrees, so close relatives should be consulted

consent form and theoretical test with 60 questions (developed by Oppenheimer Foundation) - only those with 100% correct answers pass -

  • priority to applicants who also satisfy one or more of the following criteria: older individuals, individuals with exsiting exome (>60% gene coding regions) or whole genome sequence data, individuals with a known genetic disease (rare or common), individuals from an under-represented category, individuals with grown children, individuals with immediate family members who also seek enrollment in the PGP (and have passed the entrance exam), and individuals motivated to represent the PGP in various stakeholder communities.
  • The call for donors is directed especially to members of the scientific community as the donors are expected to have basic knowledge of genetics that shall help them understand the whole extent of their decision to participate.


The PGP has received grants from the Broad Institute of Harvard and MIT. Further, it is receiving in-kind support from Harvard Medical School, among others. Also, a number of biotech companies, such as the three major sequencing technology providers Illumina, Roche and Life Technologies.

To expand the capacity of the Personal Genome Project, they seek donations coming from foundations, private companies, and individual donors. is qualified as a charitable organization. Contributions to are tax-deductible to the extent permitted by law.


In April 2011, Personal Genome Project is developing consent forms in order to enroll volunteers to the project. As of yet, there are no final results.

However, there are some companies which are currently offering personalized genomics and medicine:


23andMe claims to be developing new methods and technologies that will enable consumers to understand their own genetic information. They provide the customer with a commercial kit to collect saliva sample and ask him to sign a consent form. The customer accepts that the results can be used in research. The customer sends the sample back to 23andMe and within a few weeks gets access to a personal webpage in the company website with information about health and ancestry.

Ancestry results are:

- Maternal and paternal haplogroups.

- Ancestry painting: geographic origins of each chromosome and their segments.

- Global Similarity: customer similarity to other people based on geographic origins.

- Relative finder: list of people most related to you in the 23andMe database (around 35000 people on March 2010).

- Compare genes: to see similarities the customer share with another person for genes associated specific traits.

- Inheritance Calculator: select two people and see their offspring’s potential traits.

Health results are:

- Clinical Reports: information about conditions and traits for which there are genetic associations supported by multiple, large, peer-reviewed studies. Subgroups:

o Disease Risks

o Carrier Status

o Traits

o Drug Response

- Research Reports: information based on research with limited scientific evidence and has thus not been demonstrated through large, replicated studies.

- Health Labs: showcasing experimental features that may still be in development require specialized knowledge or be of interest only to a subset of our customers.

In 2010, 23andMe developed a web-based research paradigm (23andWe) designed to facilitate the rapid recruitment and phenotyping of participants for many studies at once, thus reducing the time and money needed to make new discoveries. The published that self-reported data from customers has the potential to yield data of comparable quality as data gathered using traditional research methods.

Now, over 60,000 people contributed data to the study of 22 separate traits. Novel SNP associations were revealed for hair curl, asparagus anosmia (the inability to detect the scent of certain asparagus metabolites in urine), the photic sneeze reflex (the tendency to sneeze when entering bright light), and freckling. Previously identified genetic associations between nine genes and certain pigmentation-related traits (hair color, eye color, and freckling) were replicated.

23andMe also launched a new 23andWe community devoted to advancing research into sarcoma, a rare set of cancers that affect the bone and connective tissues with collection of both phenotypic and genetic data from 500 individuals diagnosed with sarcoma already completed in January 2011.

There are other companies that provide similar services: decode genetics, Navigenics, Bioresolve and Family Tree DNA.



Scientific Impact

The query personal genomes in google give 3.590.000 matches, whereas in pubmed gives 1.150, indicating that it is a newborn field that is still at its initial stage.

With the new sequencing advents it is possible to sequence entire genomes at an affordable price, allowing the scientific community to dispose from several genomes. Genomes or exomes from patients could be sequenced and compared to control genomes, allowing then the detection of candidate variants causing the disease. Once these variants are identified, a validation process can be done trying to identify the final cause of the disease.

The GEUVADIS consortium aims to share knowledge on medical genome sequencing at an European level. This type of projects have several scientific impacts, such as gaining knowledge about technical issues (data storage, quality control, pipeline definition), identifying new variant causing disease, identifying new biological pathways, etc.

Social Impact

On the social side, the results obtained from these projects could be useful for disease detection, genetic counseling, they could help to establish a correct treatment, etc. However, these types of projects are under strong ethical issues:

  • 20% of the human genes are under patent. A gene is patentable if its function is described and it’s the solution to a problem, meaning that it could be used to diagnose or offer treatment for a disease.
  • It could reveal the propensity for a disease affecting employment or health insurance of the subject.
  • Synthetic DNA could be done from public genomes and used for not scientific proposes, such as a confounding element in a crime scene.
  • Paternity could be inferred without consent, as well as genealogy information.
  • Reveal propensity for a disease currently lacking effective treatment options

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