Introduction to Personalized Genomics / Pharmacogenomics
Following the completion of the Human Genome Project (1) ("HGP"), genomics has come to the forefront of biomedical research. (2) Genomics refers to the study of genomes and individual DNA gene sequences. (3) Genomic scientists utilize an organism's genomic information to develop new research technologies and correspondingly use the research information to improve disease treatments. (4) Genomic research technologies include gene expression microarrays, (5) comparative genome hybridization, (6) and single nucleotide polymorphism ("SNP") databases. (7)
Since the HGP was only comprised of a few DNA donors' genomes, (8) researchers are currently undertaking efforts to sequence the genomes of many more individuals. (9) One such effort is the Personal Genome Project, initiated by Dr. George Church at Harvard University, who seeks volunteers to donate their DNA to be sequenced and later stored in public databases for biomedical research. (10) Church has stated that "[p]ersonal genomic research may be the key that unlocks preventative and therapeutic solutions for such life-threatening conditions as cancer, Alzheimer's disease, and heart disease...." (11)
In addition to public efforts like the Personal Genome Project, private personal genome sequencing companies have sprouted up. Knome, Inc., founded in 2007, provides full genome sequencing to its customers. (12) Other personal genomic companies include: 23andMe, (13) Illumina, (14) Navigenics, (15) deCODE Genetics, (16) and DNA Direct. (17) Such private companies sequence individuals' personal genomes for a fee, giving customers access to their genomic data. Over time, prices for personal genome sequencing have continued to decline. (18)
Pharmaceutical companies are also becoming increasingly involved in personalized genomics. Although large pharmaceutical companies do not offer personal genome services to customers, many drug companies now are involved in pharmacogenomic studies. (19) Pharmacogenomics is the study of how particular genomes and/or gene variants affect individuals' responses to particular drugs. (20) For instance, "[g]enetic variants in drug metabolizing enzymes can have a significant effect on the way a person responds to a drug." (21) Pharmacogenomics allows physicians to treat particular individuals with specific drugs exhibiting increased efficacy due to the patient's genetic profile. (22) Also noteworthy is that such pharmocogenomic studies have not only been the focus of independent research centers and private companies, but also of the Food and Drug Administration ("FDA") (23), the National Institutes of Health ("NIH") (24), and even the Secretary of Health and Human Services. (25)
Public Personalized Genomic Research
After receiving new funds through the American Recovery & Reinvestment Act of 2009, the NIH allocated $200 million for the 2009-10 fiscal years toward a new initiative called the "NIH Challenge Grants in Health and Science Research." (26) Many of the Challenge Areas and Challenge Topics identified by the NIH involve personalized genomic research, including not only how to effectively use such data, but also bioethical concerns over personal genomic databases and personal privacy. (27) In addition, the National Human Genome Research Institute ("NHGRI") at NIH recently committed $9.5 million toward genomic sequencing innovation, continuing the institute's drive to create a $1000 genome (hereinafter, 1000 Genomes Project). (28) The ability to sequence an individual's genome for $1000 would be a significant development in personalized medicine, especially considering the initial cost of the HGP. (29) Also, the Center for Disease Control ("CDC") and NIH co-hosted a workshop in 2008 which focused not only on the promise of personalized genomics, but also on the foundational scientific need to transform personalized genomics from mere laboratory research to everyday medical practice. (30) More recently, the Genomics and Personalized Medicine Act of 2010 was introduced in the House of Representatives to help realize the potential of personalized genomics. (31)
In an effort to increase the number of genome sequences available for public research, an international consortium was developed to sequence the genomes of approximately 1000 individuals. (32) The data from this project will be made publicly available, so that researchers can download and analyze the genomic data. (33) Since such genomic sequences must come from volunteers who submit their DNA, the consortium requires informed consent from each volunteer. (34)
Another effort to increase the number of genomes accessible for public research is the Personal Genome Project ("PGP"). (35)
We foresee a day when many individuals will want to get their own genome sequenced so that they may use this information to understand such things as their individual risk profiles for disease, their physical and biological characteristics, and their personal ancestries. To get to this point will require a critical mass of interested users, tools for obtaining and interpreting genome information, and supportive policy, research, and service communities. To catalyze these developments, we launched the Personal Genome Project (PGP). (36) The PGP aims to have 100,000 participants volunteer their personal DNA for genome sequencing. (37) In addition, not only does the PGP require informed volunteer consent, the program also requires an entrance examination to test one's understanding of the risks and benefits of submitting personal DNA to be sequenced. (38)
Private Personalized Genomic Research Services
Several private companies now offer personalized genotyping and sequencing services. For example, 23andMe genotypes (39) an individuals' DNA 2-4 weeks after they submit a saliva sample. (40) 23andMe provides customers with personalized genetic results regarding 211 different diseases and conditions, (41) ancestry, (42) and even provides a mechanism for customers to contribute their genomic information to research. (43) 23andMe states that "[w]ith enough data, we believe 23andMe can produce revolutionary findings that will benefit us all." (44)
Knome, Inc. is "the first personal genomics company to commercially offer whole-genome sequencing and analysis services for individuals." (45) For $68,500 individuals can have their entire genome sequenced, (46) or for $24,500 Knome will sequence a subset of 20,000 genes. (47) After sequencing, Knome allows customers to submit their genomic information for research. (48)
Another company, Navigenics, offers personal genetic testing at varied price points (49) Navigenics advertises that "[k]nowing your genetic predispositions for important health conditions is an investment in your health. By gaining insight into these predispositions, you have the power to help delay the onset of conditions, detect them earlier, or prevent them altogether." (50)
Importance of Personal Genomics
Personal genomics can provide researchers and participants with a great wealth of information. For example, DNA volunteers benefit public research by providing genomic information for scientists to study. Researchers are able to study how individuals' phenotypic characteristics are linked to their genomic variations. (51) The greater the number of individuals who participate in personal genome studies, the more researchers are able to learn. Increased sample sizes, and genomic variations displaying different disease states and family backgrounds, allow genomic scientists to better pin-point particular DNA and gene variants to understand how they function. (52) Already, as a result of these studies, scientists and doctors are able to better predict and target disease than ever before. (53)
In addition, personal genomics creates informed patients, who become aware early of genetic risks. In many circumstances, individuals can be tested by personal genetic companies without first consulting a doctor. (54) Myriad Genetics, (55) for example, genetically tests individuals to detect risk for breast cancer, colorectal and uterine cancers, colon cancer, hereditary melanoma, and other diseases. (56) Additionally, 23andMe (57) offers a relative finder tool, (58) a global origins tool, (59) and personal health services. (60) 23andMe tests clients for select BRCA (breast) cancer mutations, cystic fibrosis, sickle cell anemia, malaria resistance, Tay-Sachs disease, and Warfarin sensitivity. (61) 23andMe also tests for risks such as Crohn's disease, Parkinson's disease, prostate cancer, psoriasis, rheumatoid arthritis, and type 1 and 2 diabetes. (62) Navigenics analyzes DNA for such risks as Alzheimer's disease, breast cancer, colon cancer, Crohn's disease, type 2 diabetes, glaucoma, heart attack, lactose intolerance, lung cancer, lupus, macular degeneration, melanoma, multiple sclerosis, obesity, prostate cancer, and rheumatoid arthritis. (63) The abundance of genetic tests these companies offer helps individuals become aware of genetic risks earlier, in turn promoting early detection and treatment of genetic diseases.
LEGAL CONCERNS SURROUNDING PERSONAL GENOMICS
The emergence of personal genomics has brought not only great promise but also great fear. The sharing of one's genome with the research community, or allowing a private for-profit company to sequence one's DNA, raises legal concerns about bioethics, informed consent, privacy, property and duty of care, among others. Consequently, many personal genomic research projects and companies have developed measures to obtain the informed consent of participants and secure the privacy of the individual's DNA information.
This note will first highlight some of the strategies used by companies and organizations to protect participants in DNA studies, followed by an analysis of: the Genetic Information Non-Discriminatory Act, informed consent, privacy-based...
Personalized genomics: a need for a fiduciary duty remains.
|Author:||Mejido, Josef A.|
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