MBG 1000 Chapter Notes - Chapter 20: Carrier Testing, Newborn Screening, Genetic Testing
17 Apr 2016
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A genetic counselor provides information to individuals, couples expecting children and families about modes of inheritance, recurrence risks, genetic tests and treatments. The counselor helps people make decisions while being sensitive to individual choices. The shortage of genetic counselors has led other health care professionals to provide the service. Preconception comprehensive carrier testing checks couples for many recessive diseases before they have children. Cell-free fetal dna can be analyzed to detect mutations. Newborn screening uses tandem mass spectrometry to detect dozens of telltale metabolites in a single blood sample. Government regulations for genetic testing apply only to tests used to diagnose disease. Unawareness of incomplete penetrance is one complication of dtc genetic testing. Pharamacohenetics and pharmacogenomics help physicians to select the best drugs for individual patients. Protein-based therapies replace proteins, reduce substrates and correct misfolding. Germline gene therapy targets or fertilized ova, is heritable, and is not done on humans. Somatic gene therapy targets somatic cells and is not heritable.
