Genetic counseling is a process of communication and education that addresses concerns relating to the development and/ or transmission of a hereditary/genetic disorder.

The purpose of genetic counseling is to enable a consultand (person who seeks counseling) to understand:
–The medical diagnosis and its implications in terms of prognosis and possible treatment
–The mode of inheritance of the disorder and the risk of developing and/ or transmitting it
–The choices or options available for dealing with the risks

Often provided by Genetic Counselors
•Specially and highly trained professionals
•Counselors and geneticists

Common Indications for genetic counseling
1.Previous child with congenital anomalies, a birth defect, cleft lip or palate
2.Family history of hereditary condition – Cystic fibrosis, fragile X syndrome or diabetes
3.Prenatal diagnosis for AMA or other
5.Teratogen exposure
6.Repeated pregnancy loss or infertility
7.Newly diagnosed abnormality or genetic condition
8.Before undertaking genetic testing and after receiving results
9.Follow-up for a positive newborn test (PKU, or screening test like Tay-Sachs)

Steps in Genetic Counseling

•Establishing the diagnosis

•Calculating and presenting the risk
–Quantifying a risk
–Qualifying a risk
–Putting a risk in context

•Discussing the options

•Communication and support
–Patient support groups

Establishing the diagnosis

–Most crucial step in any genetic consultation

  •History taking
  •Examination and

Genetic heterogeneity may complicate subsequent counseling process. For example Ehlers-Danlos syndrome, Chareot Marie-Tooth disease and retinitis pigmentosa can show autosomal dominant, autosomal recessive and X-linked recessive inheritance.

Calculating and presenting the risk

–Need to consider delayed age of onset and reduced prenetrance

  •Quantification: expressing a risk in number
  –1 in 4 or 25%
  –1 in 25 chance of having disease but 24 out of 25 that disease         will not occur

  •Qualification: nature of a risk
  –Polydactyly even if it has high risk of 1 in 2 VS NTD with   relatively low risk of 1 in 25

  •Putting a risk in context
  –1 in 40 of all babies has a congenital malformation or   handicapping disorder

Discussing the options

–consultands should be provided with all of the information necessary for them to make their own informed decisions.
–Should include details of all the options available
–For example,
•if relevant, the availability of prenatal diagnosis should be discussed, together with details of the techniques, limitations and risks associated with the various methods employed
•Various reproductive options –donor sperm, donor ova or PGD

Communication and support

–Should present information clearly in sympathetic and appropriate manner

–Should listen carefully
–be receptive to the fears and aspirations, expressed or unexpressed
–The setting should be agreeable, private and quiet, with ample time for discussion and questions
–technical terms should be avoided or, if used, fully explained
–Questions should be answered openly and honestly
–Written summary for follow up
–should contact the consultand at later date
–Should refer to appropriate patient support groups

Genetic Counseling should be
–Non-directive and nonjudgmental
–as the main goal of genetic counseling is to provide the information so that an individual or a couple can reach their own decisions based on full information about the risks and options.

Thus the role of the genetic counselor is to facilitate and enhance individual autonomy rather than to give advice or recommend a particular course of action.

Additional Note:

Role of Nurses in genetic counseling (source:
It is more or less the same as steps in genetic counseling discussed above. However, for convenience a brief summary is given below:
  • Take detailed family history
  • Construct pedigrees
  • Assess hereditary and nonhereditary risk factors related to genetic diseases, or diseases with a genetic component
  • Provide genetic information to individuals and families
  • Interpret genetic tests and laboratory data
  • Manage and care for patients and families at risk for or affected by genetic diseases or diseases with a genetic component
  • Provide genetic counselling, genetic consultation, and case management for persons with complex genetic health care needs.

For example, if a woman is concerned about her breast cancer risk and wants to know whether she should undergo genetic testing for its susceptibility, a nurse could provide genetic education about breast cancer susceptibility genes, take a detailed family history and construct a pedigree, assess the women’s hereditary and nonhereditary cancer risk factors, and inform about the risks and benefits of genetic testing.

The genetic nurse could also provide information about the woman’s breast cancer risk compared to the general population and estimate the probability she may carry a mutation in either the BRCA1 or BRCA2 gene, which is associated with a greatly increased risk for both breast and ovarian cancer. Whether or not the woman chose to pursue genetic testing, the genetic nurse could make recommendations for breast cancer risk reduction and surveillance as well as refer her to appropriate community resources.


Following resources are used while preparing this post (readers are strongly recommended to go through them for more details):
Thomson and Thomson Genetics in Medicine, 7th Edition
Emery's Elements of Medical Genetics, 14th Edition