Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans, to gain information used for selective breeding, or for efforts to boost genetic diversity in endangered populations.
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.
The Framingham Heart Study is a long-term, ongoing cardiovascular cohort study of residents of the city of Framingham, Massachusetts. The study began in 1948 with 5,209 adult subjects from Framingham, and is now on its third generation of participants. Prior to the study almost nothing was known about the epidemiology of hypertensive or arteriosclerotic cardiovascular disease. Much of the now-common knowledge concerning heart disease, such as the effects of diet, exercise, and common medications such as aspirin, is based on this longitudinal study. It is a project of the National Heart, Lung, and Blood Institute, in collaboration with Boston University. Various health professionals from the hospitals and universities of Greater Boston staff the project.
deCODE genetics is a biopharmaceutical company based in Reykjavík, Iceland. The company was founded in 1996 by Kári Stefánsson with the aim of using population genetics studies to identify variations in the human genome associated with common diseases, and to apply these discoveries "to develop novel methods to identify, treat and prevent diseases."
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.
Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to the Centers for Disease Control and Prevention (U.S.), Public Health genomics is an emerging field of study that assesses the impact of genes and their interaction with behavior, diet and the environment on the population's health.
Race and health refers to how being identified with a specific race influences health. Race is a complex concept that has changed across chronological eras and depends on both self-identification and social recognition. In the study of race and health, scientists organize people in racial categories depending on different factors such as: phenotype, ancestry, social identity, genetic makeup and lived experience. "Race" and ethnicity often remain undifferentiated in health research.
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.
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.
Return of results is a concept in research ethics which describes the extent of the duty of a researcher to reveal and explain the results of research to a research participant.
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).
Philip Awadalla is a professor of medical and population genetics at the Ontario Institute for Cancer Research, and the Department of Molecular Genetics, Faculty of Medicine, University of Toronto. He is the National Scientific Director of the Canadian Partnership for Tomorrow's Health (CanPath), formerly the Canadian Partnership for Tomorrow Project (CPTP), and executive director of the Ontario Health Study. He is also the Executive Scientific Director of the Genome Canada Genome Technology Platform, the Canadian Data Integration Centre. Professor Awadalla was the Executive Scientific Director of the CARTaGENE biobank, a regional cohort member of the CPTP, from 2009 to 2015, and is currently a scientific advisor for this and other scientific and industry platforms. At the OICR, he is Director of Computational Biology.
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.
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.
Catherine Sudlow is a British neurologist. She is a professor of Neurology and Clinical Epidemiology and Head of the Centre for Medical Informatics at the Usher Institute of Population Health Sciences and Informatics at the University of Edinburgh. She is the Chief Scientist of UK Biobank, and an honorary Consultant Neurologist in the Division of Clinical Neurosciences in Edinburgh.
Jacquelyn Taylor is the Helen F. Petit Endowed Professor of Nursing at Columbia University School of Nursing (CUSON), where she is also the Founding Executive Director of the Center for Research on People of Color (CRPC). Dr. Taylor is also the Founding Executive Director of the Kathleen Hickey Endowed Lectureship on Cardiovascular Care, the first endowed lectureship honoring a nurse scientist at Columbia University. Additionally, Dr. Taylor holds an administrative role as Senior Advisor to the Chair of the Division of Cardiology at Columbia University Medical Center. Dr. Taylor has been a trailblazer in cardiovascular genomics research among minority populations, and diversity and inclusion efforts, having been the first black woman to earn tenure at CUSON, New York University School of Nursing, and the Yale School of Nursing. Dr. Taylor has been recognized for her contributions to the advancement of biomedical sciences, health care, and public health, having been elected to the National Academy of Medicine in 2019. Dr. Taylor is committed to mentoring and advancing health equity as she received the Columbia University Irving Medical Center 2021 Mentor of the Year Award and the 2021 Friends of the National Institute of Nursing Research (FNINR) President’s Award for her significant work in race, culture, and disparities in healthcare. Dr. Taylor has been PI of many studies including, but not limited to, an R01 from National Institute of Nursing Research (NINR)- The Intergenerational Impact of Genetic and Psychological Factors on Blood Pressure (InterGEN), a Presidential Early Career Award for Scientists and Engineers (PECASE) award from President Obama in 2017, an MPI on a P20 from NINR on Precision Health in Diverse Populations in 2018, an MPI on an R25 on Research Opportunities in Cardiovascular Diseases for Minority Undergrad and Grad Students Across the Health Sciences (RECV) in 2020, an MPI of the TRANSFORM TL1 in 2021, and MPI on a NHLBI funded T32 on Postdoctoral Training in Atherosclerosis in 2022. In 2023, she was awarded grants as MPI on an NHLBI funded R01 on 'The Impact of a race-Based stress reduction intervention on well-being, inflammation, and DNA methylation on Older African American Women at Risk for Cardiometabolic Disease' (RiSE) and a NIMHD funded R01 'Identifying and reducing stigmatizing language in home healthcare' (ENGAGE), and MPI of a U54 from NICHD on NY-Community-Hospital-Academic Maternal Health Equity Partnerships (NY-CHAMP), and PI of it's training core. In addition to leading these grants, Dr. Taylor founded the Office of Diversity and Inclusion at the Yale School of Nursing and served as its inaugural Associate Dean of Diversity, and then went on to become the inaugural Endowed Chair of Health Equity and to develop and direct the Meyers Biological Laboratory at NYU before joining Columbia University.
Igor Rudan is a Croatian-British scientist, writer, and science communicator. He leads research projects in global health and genetics, writes books, and creates documentary series.
Personalized genomics is the human genetics-derived study of analyzing and interpreting individualized genetic information by genome sequencing to identify genetic variations compared to the library of known sequences. International genetics communities have spared no effort from the past and have gradually cooperated to prosecute research projects to determine DNA sequences of the human genome using DNA sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify genetic variations. Genome sequencing became more cost-effective over time, and made it applicable in the medical field, allowing scientists to understand which genes are attributed to specific diseases.
