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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. [23] 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 .
One outcome has been the growing availability of elective genetic and genomic testing that are initiated by a patient but still ordered by a physician. [10] Additionally, elective genetic and genomic testing that does not require a physician's order called, direct-to-consumer genetic testing has recently entered the testing landscape. [11]
Forward genetics (or a forward genetic screen) starts with a phenotype and then attempts to identify the causative mutation and thus gene(s) responsible for the phenotype. For instance, the famous screen by Christiane Nüsslein-Volhard and Eric Wieschaus mutagenized fruit flies and then set out to find the genes causing the observed mutant ...
A patient's genome may include an inherited or random mutation which affects the probability of developing a disease in the future. [27] For example, Lynch syndrome is a genetic disease that predisposes patients to colorectal and other cancers; early detection can lead to close monitoring that improves the patient's chances of a good outcome. [39]
The goal of predictive medicine is to predict the probability of future disease so that health care professionals and the patient themselves can be proactive in instituting lifestyle modifications and increased physician surveillance, such as bi-annual full body skin exams by a dermatologist or internist if their patient is found to have an increased risk of melanoma, an EKG and cardiology ...
Knowing genetic information may also help in the treatment of other diseases if a patient is already at risk. Further testing is needed, especially in determining the role of GJB2 variants and environmental factors on a population level, however initial studies show promise when using genetic information along with newborn screening.
Screening for cytomegalovirus is not mandatory in all jurisdictions, and positive donors may still donate at sperm banks. [3]Donor screening for cytomegalovirus (CMV) is carried out by testing for IgG antibodies against CMV that are produced if the donor ever has contracted CMV, which is the case in between 50% and 80% of adults. [4]
The ACOG recommends genetic screening before pregnancy to all pregnant women planning to have a family. [62] After comprehensive counseling and discussion that acknowledges residual risks, it is important to respect the patients' right of choosing whether or not to pursue any component of genetic testing. [citation needed]
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