Misplaced Pages

#331668

52-627: The ASHG Scientific Achievement Award was established in 2001 and is presented annually by the American Society of Human Genetics (ASHG) for outstanding scientific achievements in human genetics that have occurred in the last 10 years. The award was formerly known as the Curt Stern Award, or the Stern Award, named in honor of Curt Stern (1902–1981), a pioneering human geneticist. It was renamed in 2023 along with several other ASHG awards in

104-431: A person 's genes and chromosomes throughout life. Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent . Genetic tests are performed on

156-412: A blood sample or buccal smear (a procedure that samples cells from the inside surface of the cheek). The procedures used for prenatal testing carry a small but non-negligible risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus. Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of

208-493: A child's biological parentage (genetic mother and father) 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 (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding , or for efforts to boost genetic diversity in endangered populations. The variety of genetic tests has expanded throughout

260-535: A company providing DTC DNA tests for genealogy purposes, has reportedly allowed the warrantless search of their database by police investigating a murder. The warrantless search led to a search warrant to force the gathering of a DNA sample from a New Orleans filmmaker; however he turned out not to be a match for the suspected killer. As part of its healthcare system, Estonia is offering all of its residents genome-wide genotyping. This will be translated into personalized reports for use in everyday medical practice via

312-522: A court order, due to data privacy, reliability, and misinterpretation concerns. Three to five percent of the funding available for the Human Genome Project was set aside to study the many social, ethical, and legal implications that will result from the better understanding of human heredity the rapid expansion of genetic risk assessment by genetic testing which would be facilitated by this project. The American Academy of Pediatrics (AAP) and

364-424: A handful of other medical conditions, such as celiac disease and late-onset Alzheimer's . DTC genetic testing has been controversial due to outspoken opposition within the medical community. Critics of DTC genetic testing argue against the risks involved in several steps of the testing process, such as the unregulated advertising and marketing claims , the potential reselling of genetic data to third parties, and

416-495: A laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorders, often using DNA sequencing . The laboratory reports the test results in writing to a person's doctor or genetic counselor. Routine newborn screening tests are done on a small blood sample obtained by pricking the baby's heel with a lancet . The physical risks associated with most genetic tests are very small, particularly for those tests that require only

468-408: A new organizational policy that removed individual's names from awards in favor of descriptive names. Source: American Society of Human Genetics This science awards article is a stub . You can help Misplaced Pages by expanding it . American Society of Human Genetics As the field of human genetics has expanded, ASHG has founded additional organizations within its membership body, including

520-407: A sample of blood , hair , skin , amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a medical procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. Alternatively, a small amount of saline mouthwash may be swished in the mouth to collect the cells. The sample is sent to

572-523: A statement on direct-to-consumer sales of genetic tests , calling for improved standards and for oversight by the Federal Trade Commission to insure the accuracy and validity of genetic testing and sales claims. Genetic testing Genetic testing , also known as DNA testing , is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring

SECTION 10

#1733085919332

624-658: Is a set of rules/regulations that helps an individual take control of their data that is collected, used, and stored digitally or in a structured filing system on paper, and restricts a company's use of personal data. The regulation also applies to companies that offer products/services outside the EU. Genetic testing in Germany is governed by the Genetic Diagnostics Act (GenDG), which mandates that health-related genetic tests can only be carried out under medical supervision to ensure

676-747: Is a type of genetic test that is accessible directly to the consumer without having to go through a health care professional. Usually, to obtain a genetic test, health care professionals such as physicians, nurse practitioners, or genetic counselors acquire their patient's permission and then order the desired test, which may or may not be covered by health insurance. DTC genetic tests, however, allow consumers to bypass this process and purchase DNA tests themselves. DTC genetic testing can entail primarily genealogical/ancestry-related information, health and trait-related information, or both. Genetic testing has been taken on by private companies, such as 23andMe , Ancestry.com , and Family Tree DNA . These companies will send

728-523: Is allowed if it is necessary in connection with the implementation of international agreements of the Russian Federation on readmission and is carried out in accordance with the legislation of the Russian Federation on citizenship of the Russian Federation. Information characterizing the physiological and biological characteristics of a person, on the basis of which it is possible to establish his identity (biometric personal data), can be processed without

780-485: Is also a concern. Some individuals avoid genetic testing out of fear it will affect their ability to purchase insurance or find a job. Health insurers do not currently require applicants for coverage to undergo genetic testing, and when insurers encounter genetic information, it is subject to the same confidentiality protections as any other sensitive health information. In the United States, the use of genetic information

832-541: Is an important consideration in making decisions about a pregnancy. Prior to the testing, the doctor or genetic counselor who is requesting a particular test can provide specific information about the cost and time frame associated with that test. [REDACTED]  This article incorporates public domain material from What are the risks and limitations of genetic testing? . United States Department of Health and Human Services . [REDACTED]  This article incorporates public domain material from What

884-496: Is due to concerns about the potential misuse of genetic data and privacy violations. While health-related genetic testing is allowed within a medical context, tests for non-medical purposes, such as ancestry or personal traits, also face legal restrictions, particularly regarding consumer access. Russian law provides that the processing of special categories of personal data relating to race, nationality, political views, religious or philosophical beliefs, health status, intimate life

936-485: Is governed by the Genetic Information Nondiscrimination Act (GINA) (see discussion below in the section on government regulation). Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation

988-1180: Is the William Allan Award , established in memory of the physician William Allan to recognize substantial and far-reaching scientific contributions to human genetics, performed over a sustained period of scientific inquiry and productivity. The Curt Stern Award , established in 2001, recognizes scientific achievements over the previous ten years. Other ASHG annual awards include: the Arno Motulsky - Barton Childs Award for Excellence in Human Genetics Education (established in 1995), Charles Epstein Trainee Research Awards (established in 1995), Advocacy Award (established in 2015), Mentorship Award (established in 2016), and Early-Career Award (established in 2017). ASHG aims to promote awareness of human genetics, encourage young people to enter genetics-related careers, foster trust and support for genetics research, and help prepare health professionals to integrate genomics into medicine. Since 2007,

1040-468: Is the lack of treatment strategies for many genetic disorders once they are diagnosed. Another limitation to genetic testing for a hereditary linked cancer, is the variants of unknown clinical significance. Because the human genome has over 22,000 genes, there are 3.5 million variants in the average person's genome. These variants of unknown clinical significance means there is a change in the DNA sequence, however

1092-701: The American College of Medical Genetics (ACMG) have provided new guidelines for the ethical issue of pediatric genetic testing and screening of children in the United States. Their guidelines state that performing pediatric genetic testing should be in the best interest of the child. AAP and ACMG recommend holding off on genetic testing for late-onset conditions until adulthood, unless diagnosing genetic disorders during childhood can reduce morbidity or mortality (e.g., to start early intervention). Testing asymptomatic children who are at risk of childhood onset conditions can also be warranted. Both AAP and ACMG discourage

SECTION 20

#1733085919332

1144-568: The Food and Drug Administration (FDA) , with the exception of a few tests offered by the company 23andMe . As of 2019, the tests that have received marketing authorization by the FDA include 23andMe's genetic health risk reports for select variants of BRCA1/BRCA2 , pharmacogenetic reports that test for selected variants associated with metabolism of certain pharmaceutical compounds, a carrier screening test for Bloom syndrome , and genetic health risk reports for

1196-518: The National Institutes of Health , there are tests available for more than 2,000 genetic conditions, and one study estimated that as of 2018 there were more than 68,000 genetic tests on the market. Genetic testing is "the analysis of chromosomes ( DNA ), proteins, and certain metabolites in order to detect heritable disease-related genotypes , mutations , phenotypes , or karyotypes for clinical purposes." It can provide information about

1248-482: The American College of Medical Genetics and Genomics (ACMG) recommended that certain genes always be included any time a genomic sequencing was done, and that labs should report the results. DNA studies have been criticised for a range of methodological problems and providing misleading, interpretations on racial classifications. Direct-to-consumer (DTC) genetic testing (also called at-home genetic testing)

1300-605: The Genetic Information Law in 2000, becoming one of the first countries to establish a regulatory framework for the conducting of genetic testing and genetic counseling and for the handling and use identified genetic information. Under the law, genetic tests must be done in labs accredited by the Ministry of Health ; however, genetic tests may be conducted outside Israel. The law also forbids discrimination for employment or insurance purposes based on genetic test results. Finally,

1352-620: The Society has organized the annual DNA Day Essay Contest for high school students. It also provides career development tools and opportunities for early-career geneticists, including fellowships in Genetics & Public Policy and Genetics & Education in partnership with the National Human Genome Research Institute . ASHG backs policies that support scientific discovery, the translation of discoveries into health advances,

1404-550: The US Supreme Court issued two rulings on human genetics. The Court struck down patents on human genes, opening up competition in the field of genetic testing. The Supreme Court also ruled that police were allowed to collect DNA from people arrested for serious offenses. Effective as of 25 May 2018, companies that process genetic data must abide by the General Data Protection Regulation (GDPR). The GDPR

1456-496: The United States called the Genetic Information Nondiscrimination Act prohibits group health plans and health insurers from denying coverage to a healthy person or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using genetic information when making hiring , firing , job placement, or promotion decisions. Although GINA protects against genetic discrimination, Section 210 of

1508-445: The accessibility of tests to consumers, promotion of proactive healthcare, and the privacy of genetic information . Possible additional risks of DTC genetic testing are the lack of governmental regulation, the potential misinterpretation of genetic information, issues related to testing minors, privacy of data , and downstream expenses for the public health care system. In the United States, most DTC genetic test kits are not reviewed by

1560-544: The appropriate application of genetics in society, and the integration of genetics teaching into children’s education and training of health professionals. In collaboration with the Federation of American Societies for Experimental Biology , ASHG supports increased federal funding for scientific research, particularly from the National Institutes of Health . On January 2, 2008, the American Society of Human Genetics released

1612-471: The connection between genetic information and disease risk, utilizing emotions as a selling factor. An advertisement for a BRCA -predictive genetic test for breast cancer stated: "There is no stronger antidote for fear than information." Apart from rare diseases that are directly caused by specific, single-gene mutation, diseases "have complicated, multiple genetic links that interact strongly with personal environment, lifestyle, and behavior." Ancestry.com ,

ASHG Scientific Achievement Award - Misplaced Pages Continue

1664-494: The consent of the subject of personal data in connection with the implementation of international agreements of the Russian Federation on readmission, administration of justice and execution of judicial acts, compulsory state fingerprinting registration, as well as in cases stipulated by the legislation of the Russian Federation on defense, security, anti-terrorism, transport security, anti-corruption, operational investigative activities, public service, as well as in cases stipulated by

1716-455: The consumer a kit at their home address, with which they will provide a saliva sample for their lab to analyze. The company will then send back the consumer's results in a few weeks, which is a breakdown of their ancestral heritage and possible health risks that accompany it. There are a variety of DTC genetic tests, ranging from tests for breast cancer alleles to mutations linked to cystic fibrosis . Possible benefits of DTC genetic testing are

1768-434: The criminal-executive legislation of Russia, the legislation of Russia on the procedure for leaving the Russian Federation and entering the Russian Federation, citizenship of the Russian Federation and notaries. Within the framework of this program, it is also planned to include the peoples of neighboring countries, which are the main source of migration, into the genogeographic study on the basis of existing collections. By

1820-549: The end of 2021, the UAE Genome Project will be in full swing, as part of the National Innovation Strategy, establishing strategic partnerships with top medical research centers, and making sustainable investments in healthcare services. The project aims to prevent genetic diseases through the use of genetic sciences and innovative modern techniques related to profiling and genetic sequencing, in order to identify

1872-514: The following: ASHG's mission is to advance human genetics in science, health, and society through excellence in research, education, and advocacy. It serves research scientists, health professionals, and the general public by providing forums to: The ASHG Annual Meeting is the oldest and largest international human genetics conference worldwide. It is held each fall in a major U.S. or Canadian city and attracts about 6,000–7,000 attendees, plus exhibitors. The meeting features invited presentations from

1924-458: The former Soviet Union (FSU) are asked to provide DNA confirmation of their Jewish heritage in the form of paternity tests in order to immigrate as Jews and become citizens under Israel's Law of Return " has generated controversy. From the date that a sample is taken, results may take weeks to months, depending upon the complexity and extent of the tests being performed. Results for prenatal testing are usually available more quickly because time

1976-408: The genetic footprint and prevent the most prevalent diseases in the country, such as obesity, diabetes, hypertension, cancer, and asthma. It aims to achieve personalized treatment for each patient based on genetic factors. Additionally, a study by Khalifa University has identified, for the first time, four genetic markers associated with type 2 diabetes among UAE citizens. The Israeli Knesset passed

2028-466: The increase for cancer is unclear because it is unknown if the change affects the gene's function. A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision. Other risks include incidental findings —a discovery of some possible problem found while looking for something else. In 2013

2080-489: The involvement of parents or guardians. Within the guidelines set by AAP and ACMG, health care providers have an obligation to inform parents or guardians on the implication of test results. AAP and ACMG state that any type of predictive genetic testing should be offered with genetic counseling by clinical genetics , genetic counselors or health care providers. In Israel, DNA testing is used to determine if people are eligible for immigration. The policy where "many Jews from

2132-507: The law states that once the disease has manifested, employers can use the medical information and not be in violation of the law, even if the condition has a genetic basis. The legislation, the first of its kind in the United States, was passed by the United States Senate on April 24, 2008, on a vote of 95–0, and was signed into law by President George W. Bush on May 21, 2008. It went into effect on November 21, 2009. In June 2013

ASHG Scientific Achievement Award - Misplaced Pages Continue

2184-430: The law takes a strict approach to genetic testing on minors, which is permitted only for the purpose of finding a genetic match with someone ill for the sake of medical treatment, or to see whether the minor carries a gene related to an illness that can be prevented or postponed. Under the Genetic Information Law as of 2019, commercial DNA tests are not permitted to be sold directly to the public, but can be obtained with

2236-401: The national e-health portal. The aim is to minimise health problems by warning participants most at risk of conditions such as cardiovascular disease and diabetes. It is also hoped that participants who are given early warnings will adopt healthier lifestyles or take preventative drugs . In 2005, National Geographic launched the "Genographic Project", which was a fifteen-year project that

2288-499: The overall lack of governmental oversight. DTC genetic testing involves many of the same risks associated with any genetic test. One of the more obvious and dangerous of these is the possibility of misreading of test results. Without professional guidance, consumers can potentially misinterpret genetic information, causing them to be deluded about their personal health. Some advertising for DTC genetic testing has been criticized as conveying an exaggerated and inaccurate message about

2340-660: The proper interpretation of results and informed decision-making. The law emphasizes genetic counseling and informed consent, protecting individuals from potential misuse or misunderstanding of their genetic data. The legal status of genetic testing in France is regulated under strict privacy and data protection laws, including the Bioethics Law. Direct-to-consumer (DTC) genetic tests, especially those for health-related purposes, are prohibited unless conducted with medical oversight to ensure informed consent and appropriate counseling. This

2392-495: 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

2444-450: The test results. People may feel angry, depressed, anxious, or guilty about their results. The potential negative impact of genetic testing has led to an increasing recognition of a "right not to know". In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance

2496-444: The use of direct-to-consumer and home kit genetic tests because of concerns regarding the accuracy, interpretation and oversight of test content. Guidelines also state that parents or guardians should be encouraged to inform their child of the results from the genetic test if the minor is of appropriate age. For ethical and legal reasons, health care providers should be cautious in providing minors with predictive genetic testing without

2548-575: The world's leading geneticists, along with a variety of symposia, workshops, and other abstract-driven sessions focusing on the most important and recent developments in basic, translational, and clinical human genetics research and technology. It also offers exhibitors the opportunity to interact with attendees and promote their services, products, and new technology, including state-of-the-art medical and laboratory equipment, and computer software designed to enhance genetics research and data analysis. The society's highest honor, awarded annually since 1961,

2600-410: The years. Early forms of genetic testing which began in the 1950s involved counting the number of chromosomes per cell. Deviations from the expected number of chromosomes (46 in humans) could lead to a diagnosis of certain genetic conditions such as trisomy 21 ( Down syndrome ) or monosomy X ( Turner syndrome ). In the 1970s, a method to stain specific regions of chromosomes, called chromosome banding ,

2652-456: Was developed that allowed more detailed analysis of chromosome structure and diagnosis of genetic disorders that involved large structural rearrangements. In addition to analyzing whole chromosomes ( cytogenetics ), genetic testing has expanded to include the fields of molecular genetics and genomics which can identify changes at the level of individual genes, parts of genes, or even single nucleotide "letters" of DNA sequence. According to

SECTION 50

#1733085919332

2704-460: Was discontinued in 2020. Over one million people participated in the DNA sampling from more than 140 countries, which made the project the largest of its kind ever conducted. The project asked for DNA samples from indigenous people as well as the general public, which spurred political controversy among some indigenous groups, leading to the coining of the term "biocolonialism". With regard to genetic testing and information in general, legislation in

#331668