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Genetic Consultation

Genetic Consultation

What is a genetic consultation?

A genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic disorders. During a consultation, a genetics professional meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition.

Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (certified healthcare workers with experience in medical genetics and counseling). Other healthcare professionals such as nurses, psychologists, and social workers trained in genetics can also provide genetic consultations.

Genetic Counselling provides the information not only to those who are at risk group of having or carrying a genetic disease but also Counsellor enlightens their close relatives about the course of the disease, the probability of recurrence and, if any,  possible treatment strategies. Counsellor, in this context, can be a geneticist, a specialised medical doctor, a biologist and a psychologist.  One of the foremost duties of genetic counsellors is to convey the precise and accurate knowledge to the family members about the disease and offer them technically feasible solutions. That is why a Genetic Counsellor should never try to impose his/her personal opinions but rather should remain only as a guide. Instead, the final decision should be left for those who may concern.

Genetic Counselling Indications

  • Genetic or hereditary based disease and carriage
  • Identifying children with genetic diseases
  • One or more mulfunctioning
  • Growth retardation and short stature
  • Gender developmental abnormalities
  • Mental retardation
  • Recurrent pregnancy loss
  • exposure to a teratogen agent
  • Advanced maternal age (≥35)
  • Kinship
  • Infertility
  • Determining problem(s) in fetus during pregnancy

Prior to genetic counselling, diagnosis of the diseases must be definite. That is why a family history and family pedigree must be constructed by a geneticist. If the patient is a child, then his/her parents should be found and and their genetic background should definitely be accessed as the family pedigree is figured out. Parents and ill children should medically be examined. Various analysis such as chromosome analysis, DNA analysis, level of enzyme activities may be required in order to identify the disease or to reveal the pattern of inheritance.

After all these procedures have been completed, if the diagnose for and result of the disease have been determined, then family should be enlightened about the possible problems and consequences of the disease, risk for the next pregnancies and what should be done before and after pregnancy. Identified risks have a wide range of possibilities changing from having all babies with the disease to no absolute problem at all in consecutive pregnanciesIf only the pattern of inheritance has been identified without being able to put a concrete diagnose for the disease, families can be informed about the probability of recurrence.

Disease Types and Genetic Counseling

Single gene diseases, chromosomal diseases, multifactorial diseases, trinucleotide repeat diseases and mitochondrial diseases are the ones for which genetic counselling is required. Genetic counselling is particularly important for the families, if they previously have had children with anyone of the problem(s) like multiple congenital malformations, mental retardation, growth retardation and gender anomalies. Furthermore, couples suffering from  recurrent pregnancy loss, being exposed to teratogens during pregnancy or showing pathological findings in ultrasound examination and  advanced maternal age,consanguineous marriage and infertility cases also  require genetic counseling.