Genetic testing in the context of "Predictive medicine"

Orcas or killer whales have a cosmopolitan distribution and several distinct populations or types have been documented or suggested. Three to five types of orcas may be distinct enough to be considered different races, subspecies, or possibly even species (see species problem). The IUCN reported in 2008, "The taxonomy of this genus is clearly in need of review, and it is likely that O. orca will be split into a number of different species or at least subspecies over the next few years." However, large variation in the ecological distinctiveness of different orca groups complicate simple differentiation into types. Mammal-eating orcas in different regions were long thought likely to be closely related, but genetic testing has refuted this hypothesis.

Pseudotsuga menziesii var. glauca, or Rocky Mountain Douglas-fir, is an evergreen conifer native to the interior mountainous regions of western North America, from central British Columbia and southwest Alberta in Canada southward through the United States to the far north of Mexico. The range is continuous in the northern Rocky Mountains south to eastern Washington, eastern Oregon, Idaho, western and south-central Montana and western Wyoming, but becomes discontinuous further south, confined to "sky islands" on the higher mountains in Utah, Colorado, Arizona and New Mexico, with only very isolated small populations in eastern Nevada, westernmost Texas, and northern Mexico. It occurs from 600 m altitude in the north of the range, up to 3,000 m, rarely 3,200 m, in the south. Further west towards the Pacific coast, it is replaced by the related coast Douglas-fir (Pseudotsuga menziesii var. menziesii), and to the south, it is replaced by Mexican Douglas-fir in high mountains as far south as Oaxaca. Some botanists have grouped Mexican Douglas-fir with P. menziesii var. glauca, but genetic and morphological evidence suggest that Mexican populations should be considered a different variety (Pseudotsuga menziesii var. lindleyana).

Rocky Mountain Douglas-fir is most commonly treated as a variety (Pseudotsuga menziesii var. glauca), but has also been called a subspecies (Pseudotsuga menziesii subsp. glauca) or more rarely (mainly in the past) a distinct species (Pseudotsuga glauca). The strong ecological and genetic differentiation with intergradation limited primarily to postglacial contact zones in British Columbia supports infraspecific groupings. Some botanists have further split Rocky Mountain Douglas-fir into two varieties, but these are not widely acknowledged and have only limited support from genetic testing.

Huntington's disease (HD), also known as Huntington's chorea, is a fatal neurodegenerative disease that is mostly inherited. It typically presents as a triad of progressive psychiatric, cognitive, and motor symptoms. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities, which precede the motor symptoms for many people. The definitive physical symptoms, including a general lack of coordination and an unsteady gait, eventually follow. Over time, the basal ganglia region of the brain gradually becomes damaged. The disease is primarily characterized by a distinctive hyperkinetic movement disorder known as chorea. Chorea classically presents as uncoordinated, involuntary, "dance-like" body movements that become more apparent as the disease advances. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia, depression, apathy, and impulsivity at times. The specific symptoms vary somewhat between people. Symptoms can start at any age, but are usually seen around the age of 40. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, which typically present with the slow movement symptoms of Parkinson's disease rather than those of chorea.

HD is typically inherited from an affected parent, who carries a mutation in the huntingtin gene (HTT). However, up to 10% of cases are due to a new mutation. The huntingtin gene provides the genetic information for huntingtin protein (Htt). Expansion of CAG repeats of cytosine-adenine-guanine (known as a trinucleotide repeat expansion) in the gene coding for the huntingtin protein results in an abnormal mutant protein (mHtt), which gradually damages brain cells through a number of possible mechanisms. The mutant protein is dominant, so having one parent who is a carrier of the trait is sufficient to trigger the disease in their children. Diagnosis is by genetic testing, which can be carried out at any time, regardless of whether or not symptoms are present. This fact raises several ethical debates: the age at which an individual is considered mature enough to choose testing; whether parents have the right to have their children tested; and managing confidentiality and disclosure of test results.

A chromosomal abnormality or chromosomal anomaly is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing.

Sometimes chromosomal abnormalities arise in the early stages of an embryo, sperm, or infant. They can be caused by various environmental factors. The implications of chromosomal abnormalities depend on the specific problem, they may have quite different ramifications. Diseases and conditions caused by chromosomal abnormalities are called chromosomal disorders or chromosomal aberrations. Some examples are Down syndrome and Turner syndrome. However, chromosomal abnormalities do not always lead to diseases. Among abnormalities, structural rearrangements of genes between chromosomes can be harmless if they are balanced, which means that a set of the chromosomes remains complete and there are no gene breaks across the chromosomes.

The Indus Valley Civilisation (IVC), also known as the Harappan Civilisation, was a major early civilisation, existing from 3300–1300 BCE. It covered much of modern-day Pakistan and northwest India, as well as possessing at least one trading colony in northeast Afghanistan.Over 1000 Indus Valley Civilisation sites have been discovered. Only 40 sites on the Indus valley were known in the pre-Partition era by archaeologists.

The most widely known Indus Valley sites are Mohenjo-daro and Harappa; Mohenjo-daro is located in modern-day Sindh, while Harappa is in West Punjab. More than 90% of the inscribed objects and seals that were discovered were found at ancient urban centres along the Indus river in Pakistan, mainly in Harappa and Mohenjo-daro. More than 50 IVC burial sites have been found, including at Rakhigarhi (first site with genetic testing), Mohenjo-Daro, Harappa, Farmana, Kalibangan, Lothal, Dholavira, Mehrgarh, Banawali, Alamgirpur and Chanhudaro .

The polymerase chain reaction (PCR) is a laboratory method widely used to amplify copies of specific DNA sequences rapidly, to enable detailed study. PCR was invented in 1983 by American biochemist Kary Mullis at Cetus Corporation. Mullis and biochemist Michael Smith, who had developed other essential ways of manipulating DNA, were jointly awarded the Nobel Prize in Chemistry in 1993.

PCR is fundamental to many of the procedures used in genetic testing, research, including analysis of ancient samples of DNA and identification of infectious agents. Using PCR, copies of very small amounts of DNA sequences are exponentially amplified in a series of cycles of temperature changes. PCR is now a common and often indispensable technique used in medical laboratory research for a broad variety of applications including biomedical research and forensic science.

Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.

As of 2019, about 30 million people had been tested. As the field developed, the aims of practitioners broadened, with many seeking knowledge of their ancestry beyond the recent centuries, for which traditional pedigrees can be constructed.