This post provides an overview of genetic counseling as well as an introduction to current topics in genomics.
Genetic counseling is the process by which patients and relatives can learn about their predisposition to disorders that may be passed down from a prior generation. In counseling sessions, those who are at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them to better manage their health. It is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
This process integrates:
- Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
- Education about inheritance, testing, management, prevention, resources and research.
- Counseling to promote informed choices and adaptation to the risk or condition.
Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health, and social work. Genetic counselors also provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other healthcare professionals and for the general public. Some counselors also work in administrative capacities. Many engage in research activities related to the field of medical genetics and genetic counseling. They provide a critical service to individuals and families considering undergoing genetic testing by helping them identify their risks for certain disorders, investigate family health history, interpret information and determine if testing is needed. As the knowledge of genetics continues to expand, genetic counselors are working in nearly all areas of healthcare.
The Deerwalk Genomics team helps genetic counselors work with patients and physicians. Deerwalk Genomics provides the interpretation of genetic variants and curation of overall information for genetic diseases. Our team works with specials in multiple areas including assisted fertility, cardiovascular genetics, cancer risk counseling, hematology, metabolic genetics, neurogenetics, pediatric counseling, prenatal counseling and psychiatric disorders.
There are two approaches of Genetic Counseling: Prospective and Retrospective. Prospective genetic counseling allows for individuals to identify their susceptibility of passing a particular disorder to their offspring in order to make informed decisions about fertility. Most genetic counseling at present is retrospective which is done after the hereditary disorder has already occurred within the family. It is usually done in cases of metabolic errors, psychiatric illness and mental retardation.
Eugenics is an area of genetic research that aims to identify hereditary qualities in humans and improve them so we can promote better health in future generations. They do this by informing partners of their genetic disposition before they reproduce. Positive eugenics aims to improve the genetic composition of the population by encouraging carriers of desirable genotypes (genetic constitution of an individual organism) to reproduce. Negative eugenics aims to reduce the frequency of hereditary disease and disability in the community to as low as possible.
A survey carried out by the WHO showed that genetic advice was chiefly sought in connection with congenital abnormalities and in areas where genetic disorders have always constituted a serious public health problems. The WHO recommends the establishment of genetic counseling centers in sufficient numbers in regions where infectious disease & nutritional disorders have been brought under control. Deerwalk Genomics is here to make these recommendations a reality. We are excited about these recommendations and hope to continue to work at the forefront of genomics so we can help patients, physicians and genetic counselors make good decisions about their future.
“Disclaimer: This article is for informational purposes only and is not intended to be a substitute for professional advice, diagnosis, or treatment.”