Medical genetics uses genetic research to diagnose inherited diseases and develop treatment plans. Genetic screening can identify risks for genetic disorders and fertility problems. Personalized medicine can be used for diseases with a genetic component, and medical genetics can confirm diagnoses and ensure appropriate treatment plans. However, privacy concerns and genetic discrimination are potential issues.
Medical genetics is the application of genetic research to the diagnosis of inherited diseases. These include everything from congenital conditions to inherited susceptibilities to diseases like cancer. It is part of a field of preventive and predictive medicine aimed at finding and treating the genetic components of disease as early as possible. A number of professional organizations serve the field, providing certifications to care providers such as genetic counselors and geneticists.
One area of medical genetics is genetic screening. This includes prenatal screening for signs of genetic disorders, along with screening children and adults for suspected genetic conditions. People who think they may carry genetic abnormalities can request screening before preparing for pregnancy, to learn more about the risks and explore options to increase the chances of a healthy pregnancy. Genetic screening can also be used for people who are having trouble getting pregnant to see if there is a genetic component to their fertility problems.
In people with congenital conditions, medical genetics can be used to learn more about the precise nature of the condition and to develop a treatment plan. People with metabolic disorders, for example, may benefit from enzyme supplementation and other measures to compensate for their malfunctioning metabolism. Because some genetic conditions look similar but require different treatments, another aspect of medical genetics can involve confirming a diagnosis and ensuring that doctors are using an appropriate treatment plan.
For people with diseases known to have a genetic component, such as cancers, medical genetics can be used to provide personalized medicine. A breast cancer patient can be tested, for example, for signs of estrogen receptors on the cancer. This will be used to select the most appropriate treatment regimen, using drugs that target that type of cancer. The test can also be used to determine whether other family members are at risk for cancer so that recommendations on screening and preventative care can be made.
Medical genetics offers people a number of ways to prevent, diagnose, treat and manage disease. This field has also sparked controversy and concern, as is common with new developments in medicine. Privacy advocates, for example, worry about the implications of genetic testing and have expressed concern about genetic discrimination, where people could face social barriers due to the content of their genomes. Many healthcare professionals believe these risks can be managed so that people can access the many benefits of medical genetics, including highly accurate medical care and early intervention in disease treatment.
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