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UK Biobank is a large long-term biobank study in the United Kingdom (UK) which is investigating the respective contributions of genetic predisposition and environmental exposure to the development of disease. It began in 2006. UK Biobank has been cited as an important resource for cancer research.
Genetic discrimination occurs when people treat others differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
Genetic Alliance is a nonprofit organization, founded in 1986 by Joan O. Weiss, working with Victor A. McKusick, to advocate for health benefits in the accelerating field of genomic research. This organization is a network of over 1,000 disease advocacy organizations, universities, government organizations, private companies, and public policy organizations. They aim to advance genetic research agendas toward health benefit by engaging a broad range of stakeholders, including healthcare providers, researchers, industry professionals, public policy leaders, as well as individuals, families and communities. They create programs using a collaborative approach, and aim to increase efficiency and reduce obstacles in genetic research, while ensuring that voices from the involved disease communities are heard. They also promote public policies to advance healthcare. Genetic Alliance provides technical support and informational resources to guide disease-specific advocacy organizations in being their own research advocates. They also maintain a biobank as a central storage facility for several organizations who otherwise would not have the infrastructure to maintain their own repository.
A biobank is a type of biorepository that stores biological samples for use in research. Biobanks have become an important resource in medical research, supporting many types of contemporary research like genomics and personalized medicine.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
Generation Scotland is a biobank, a resource of biological samples and information on health and lifestyle from thousands of volunteer donors in Scotland.
P3G (Public Population Project in Genomicsand Society) is a not-for-profit international consortium dedicated to facilitating collaboration between researchers and biobanks working in the area of human population genomics. P3G is member-based and composed of experts from the different disciplines in the areas of and related to genomics, including epidemiology, law, ethics, technology, biomolecular science, etc. P3G and its members are committed to a philosophy of information sharing with the goal of supporting researchers working in areas that will improve the health of people around the world.
Genomic counseling is the process by which a person gets informed about his or her genome often in the setting of elective genetic and genomic testing. In contrast to genetic counseling, which focuses on Mendelian diseases and typically involves person-to-person communication with a genetic counselor or other medical genetics expert, genomic counseling is not limited to currently clinically relevant information. It is often based on genomic information that is of interest for the informed person, such as increased risk for common complex disease that has actionable components, genetically determined non-disease related traits, or recreational forms of information and genetic genealogy data. An individual's response to certain medications/drugs based on their pharmacogenomic profile may be provided.
Biobank ethics refers to the ethics pertaining to all aspects of biobanks. The issues examined in the field of biobank ethics are special cases of clinical research ethics.
Privacy for research participants is a concept in research ethics which states that a person in human subject research has a right to privacy when participating in research. Some typical scenarios this would apply to include, or example, a surveyor doing social research conducts an interview with a participant, or a medical researcher in a clinical trial asks for a blood sample from a participant to see if there is a relationship between something which can be measured in blood and a person's health. In both cases, the ideal outcome is that any participant can join the study and neither the researcher nor the study design nor the publication of the study results would ever identify any participant in the study. Thus, the privacy rights of these individuals can be preserved.
The National Bioethics Advisory Commission was the name of a United States governmental organization which existed from 1996–2001. It was replaced by The President's Council on Bioethics.
CARTaGENE is a population based cohort based on an ongoing and long-term health study of 40, 000 men and women in Québec. It is a regional cohort member of the Canadian Partnership for Tomorrow's Health (CanPath). The project's core mandate is to identify the genetic and environmental causes of common chronic diseases affecting the Québec population. The overall objective from a public health perspective is to develop personalized medicine and public policy initiatives targeting high-risk groups. CARTaGENE is under the scientific direction of Sébastien Jacquemont, Ekaterini Kritikou, and Philippe Broët of the Sainte-Justine Children's Hospital University Health Center. Based in Montréal Québec, Canada, CARTaGENE is operated under the infrastructure of the Sainte-Justine Children's Hospital University Health Center and has seen funding from Genome Canada, the Canadian Foundation for Innovation and Génome Québec and the Canadian Partnership Against Cancer (CPAC) since 2007 among other sources. The program was initially founded by Professors Claude Laberge and Bartha Knoppers, and developed through two phases of participant recruitment under the direction of Professor Philip Awadalla as Scientific Director of the cohort from 2009 to 2015, who is now the National Scientific Director of the Canadian Partnership for Tomorrow's Health (CanPath).
Personalized medicine involves medical treatments based on the characteristics of individual patients, including their medical history, family history, and genetics. Although personal genetic information is becoming increasingly important in healthcare, there is a lack of sufficient education in medical genetics among physicians and the general public. For example, pharmacogenomics is practiced worldwide by only a limited number of pharmacists, although most pharmacy colleges in the United States now include it in their curriculum. It is also increasingly common for genetic testing to be offered directly to consumers, who subsequently seek out educational materials and bring their results to their doctors. Issues involving genetic testing also invariably lead to ethical and legal concerns, such as the potential for inadvertent effects on family members, increased insurance rates, or increased psychological stress.
Dynamic consent is an approach to informed consent that enables on-going engagement and communication between individuals and the users and custodians of their data. It is designed to address the many issues that are raised by the use of digital technologies in research and clinical care that enable the wide-scale use, linkage, analysis and integration of diverse datasets and the use of AI and big data analyses. These issues include how to obtain informed consent in a rapidly-changing environment; growing expectations that people should know how their data is being used; increased legal and regulatory requirements for the management of secondary use of data in biobanks and other medical research infrastructure. The approach started to be implemented in 2007 by an Italian group who introduced the ways to have an ongoing process of interaction between researcher and participant where "technology now allows the establishment of dynamic participant–researcher partnerships." The use of digital interfaces in this way was first described as 'Dynamic Consent' in the EnCoRe project. Dynamic Consent therefore describes a personalised, digital interface that enables two-way communication between participants and researchers and is a practical example of how software can be developed to give research participants greater understanding and control over how their data is used. It also enables clinical trial managers, researchers and clinicians to know what type of consent is attached to the use of data they hold and to have an easy way to seek a new consent if the use of the data changes. It is able to support greater accountability and transparency, streamlining consent processes to enable compliance with regulatory requirements.
Genetic privacy involves the concept of personal privacy concerning the storing, repurposing, provision to third parties, and displaying of information pertaining to one's genetic information. This concept also encompasses privacy regarding the ability to identify specific individuals by their genetic sequence, and the potential to gain information on specific characteristics about that person via portions of their genetic information, such as their propensity for specific diseases or their immediate or distant ancestry.
Elective genetic and genomic testing are DNA tests performed for an individual who does not have an indication for testing. An elective genetic test analyzes selected sites in the human genome while an elective genomic test analyzes the entire human genome. Some elective genetic and genomic tests require a physician to order the test to ensure that individuals understand the risks and benefits of testing as well as the results. Other DNA-based tests, such as a genealogical DNA test do not require a physician's order. Elective testing is generally not paid for by health insurance companies. With the advent of personalized medicine, also called precision medicine, an increasing number of individuals are undertaking elective genetic and genomic testing.
DNA encryption is the process of hiding or perplexing genetic information by a computational method in order to improve genetic privacy in DNA sequencing processes. The human genome is complex and long, but it is very possible to interpret important, and identifying, information from smaller variabilities, rather than reading the entire genome. A whole human genome is a string of 3.2 billion base paired nucleotides, the building blocks of life, but between individuals the genetic variation differs only by 0.5%, an important 0.5% that accounts for all of human diversity, the pathology of different diseases, and ancestral story. Emerging strategies incorporate different methods, such as randomization algorithms and cryptographic approaches, to de-identify the genetic sequence from the individual, and fundamentally, isolate only the necessary information while protecting the rest of the genome from unnecessary inquiry. The priority now is to ascertain which methods are robust, and how policy should ensure the ongoing protection of genetic privacy.
Vardit Ravitsky is a bioethicist, researcher, and author. She is president and CEO of The Hastings Center, a full professor at the University of Montreal, and a senior lecturer on Global Health and Social Medicine at Harvard Medical School. She is immediate-past president and current vice-president of the International Association of Bioethics, and the director of Ethics and Health at the Center for Research on Ethics. She is a Fellow of the Pierre Elliott Trudeau Foundation, where she chaired the COVID-19 Impact Committee. She is also Fellow of The Hastings Center and of the Canadian Academy of Health Sciences.
Wylie Burke is a Professor Emerita and former Chair of the Department of Bioethics and Humanities at the University of Washington and a founding co-director of the Northwest-Alaska Pharmacogenomics Research Network, which partners with underserved populations in the Pacific Northwest and Alaska.
References
- ↑ Greely, H. T. (2007). "The Uneasy Ethical and Legal Underpinnings of Large-Scale Genomic Biobanks". Annual Review of Genomics and Human Genetics. 8: 343–364. doi: 10.1146/annurev.genom.7.080505.115721 . PMID 17550341. this example is a restatement of examples given in the article
- ↑ Bookman, E. B.; Langehorne, A. A.; Eckfeldt, J. H.; Glass, K. C.; Jarvik, G. P.; Klag, M.; Koski, G.; Motulsky, A.; Wilfond, B.; Manolio, T. A.; Fabsitz, R. R.; Luepker, R. V.; Nhlbi Working, G. (2006). "Reporting Genetic Results in Research Studies: Summary and Recommendations of an NHLBI Working Group". American Journal of Medical Genetics Part A. 140A (10): 1033–1040. doi:10.1002/ajmg.a.31195. PMC 2556074 . PMID 16575896.
- ↑ Shalowitz, D. I.; Miller, F. G. (2005). "Disclosing Individual Results of Clinical Research: Implications of Respect for Participants". JAMA: The Journal of the American Medical Association. 294 (6): 737–40. doi:10.1001/jama.294.6.737. PMID 16091577.
- 1 2 3 4 Ossorio, P. N. (2006). "Letting the Gene Out of the Bottle: A Comment on Returning Individual Research Results to Participants". The American Journal of Bioethics. 6 (6): 24–25, author 25 W10–25. doi:10.1080/15265160600935555. PMID 17085399. S2CID 35206185.
- ↑ Ravitsky, V.; Wilfond, B. S. (2006). "Disclosing Individual Genetic Results to Research Participants". The American Journal of Bioethics. 6 (6): 8–17. doi:10.1080/15265160600934772. PMID 17085395. S2CID 20565357.
- 1 2 Haga, S.; Beskow, L. (2008). "Ethical, Legal, and Social Implications of Biobanks for Genetics Research". Genetic Dissection of Complex Traits. Advances in Genetics. Vol. 60. pp. 505–544. doi:10.1016/S0065-2660(07)00418-X. ISBN 9780123738837. PMID 18358331.
- 1 2 3 Merz, J. F.; Sankar, P.; Taube, S. E.; Livolsi, V. (1997). "Use of human tissues in research: Clarifying clinician and researcher roles and information flows". Journal of Investigative Medicine. 45 (5): 252–257. PMID 9249997.
- ↑ Beskow, L. M. (2006). "Considering the Nature of Individual Research Results". The American Journal of Bioethics. 6 (6): 38–40, author reply W10–2. doi:10.1080/15265160600938328. PMID 17085406. S2CID 44785761.
- ↑ "NHGRI funds return of results studies, forms expert consortium". bioethicsbulletin.org. Johns Hopkins Berman Institute of Bioethics. 26 September 2011. Archived from the original on 26 April 2012. Retrieved 2 December 2011.