Patients requiring specific medicines, like warfarin, might undergo a genetic test to determine the likely rate of drug metabolism, thus providing the doctor with critical information for proper dosage. Other disorders, like Huntington's disease, have a clear genetic cause but only manifest later in life and can be tested for at any time. Genetic testing for some disorders, like certain types of cancer, may allude to a predisposition to disease under specific environmental conditions (e.g., smoking). These tests are generally performed on a blood sample collected immediately after birth. Phenylketonuria congenital hypothyroidismĪ number of such tests are required in the United States, and some states test for dozens of disorders. This type of test is generally used after an ultrasound detects an abnormality in a fetus and the mother desires a specific genetic diagnosis. This type of test is often used by individuals with a family history of a specific disorder who wish to determine their risk for having a child affected with that disorder. Types of genetic testing that are available include carrier testing for autosomal recessive and X-linked disorders, molecular or cytogenetic diagnostic testing, pharmacogenomic testing to determine how a patient might respond to a type or class of drug, and susceptibility or predictive testing, such as BRCA1 and BRCA2 testing to determine risk of breast cancer (See Table 1). In cases of inherited disorders, the clinical geneticist not only must recognize the need for and value of genetic testing, but he or she is also responsible for properly interpreting the results and making treatment or management recommendations. The clinical geneticist is a clinician who makes a diagnosis based on clinical examination of the patient along with various test results that aid in confirming the diagnosis. There is a specialist involved in each step of the process of making genetic discoveries in the laboratory and then bringing them to the general public. Such professionals include clinical geneticists, clinical laboratory geneticists, research scientists, genetic counselors, and genetic nurses. The duties of genetic health care professionals have evolved to meet the demands for generating new genetic knowledge, accurately disseminating this knowledge to the public, and generating and interpreting genetic results. The establishment of and need for such an organization is indicative of the growing responsibilities of all health care providers during the ongoing revolution in genomic health care. As a consequence, the National Coalition for Health Professional Education in Genetics is committed to educating health care providers about current genetic and genomic research. Additionally, as genetic knowledge and technologies become more mainstream, patients are increasingly asking their health care providers about genetic tests and disease risks. ![]() Health care professionals must therefore keep up with recommendations for treatments and interventions that are being researched and tailored to diagnostic results. Highly effective diagnostic tools have also been developed.Ī much-anticipated outcome of these technological advances is that new, more accurate diagnostics have rapidly become available (Figure 1). Medical science is making exciting discoveries in the nascent field of genomic health care, such as the genetic influence on predisposition to disease, with an understanding of the health needs of people based on their individual genetic makeup, as well as the genetic basis of response to treatment, allowing the design of new and highly effective therapies. A natural progression has been to integrate discoveries in genomics into the health care arena. ![]() Research in genomics is helping explain the genetic basis of many common, chronic diseases with multifactorial causes, such as cancer, heart disease, and mental illness. Scientists are also studying gene-environment interactions, as well as the functions of other regulatory areas of the genome. The vast amount of genetic information now available allows the study of not only the functions, but also the interactions between genes in the human genome. Due in large part to the completion of the Human Genome Project and subsequent government-sponsored projects like the International HapMap Project, the Encyclopedia of DNA Elements (ENCODE), the Cancer Genome Atlas (TCGA), and the Genes, Environment and Health Initiative (GEI), rapid developments in genetics are transforming our understanding of the disease process.
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