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I.12 Genetic counselling

Genetic counselling is the process through which knowledge about the genetic aspects of illnesses is shared by trained professionals with those who are at an increased risk or either having a heritable disorder or of passing it on to their unborn offspring.

Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.

This process integrates the following:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
  • Education about the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research.
  • Counselling to promote informed choices in view of risk assessment, family goals, ethical and religious values.
  • Support to encourage the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

A genetic counsellor provides information

  • on the inheritance of illnesses and their recurrence risks;
  • addresses the concerns of patients, their families, and their health care providers; and
  • supports patients and their families dealing with these illnesses .
  • drawing pedigrees in an attempt to help clarify the genetic components of diseases and birth defects,
  • provide information and feedback to patients on the inheritance or risk of inheriting illness.
  • They also discuss available options and can provide referrals to educational services, advocacy and support groups, other health professionals, and community or state services

Individuals who come to see genetic counsellors

  • may have a disorder themselves and be concerned about their family and vice versa,
  • couples with an affected child who wish to plan another pregnancy,
  • couples who are planning their first pregnancy and wish to understand the child’s disease susceptibility of their future child
  • couples who are planning a pregnancy late in life and want to assess any potential risks.

Genetic counselling service may be useful at all stages of development, for instance babies undergoing screening, teenagers being tested for Thalassemia genes or assessing the genetic predisposition of adults as they enter mid-life to accommodate for lifestyle changes.


  • Planning for Pregnancy: Genetic counseling before you become pregnant can address concerns about factors that might affect your baby during infancy or childhood or your ability to become pregnant, including
    • Genetic conditions that run in your family or your partner’s family
    • History of infertility, multiple miscarriages, or stillbirth
    • Previous pregnancy or child affected by a birth defect or genetic condition
    • Assisted Reproductive Technology (ART) options
  • During Pregnancy: Genetic counseling while you are pregnant can address certain tests that may be done during your pregnancy, any detected problems, or conditions that might affect your baby during infancy or childhood, including
    • History of infertility, multiple miscarriages, or stillbirth
    • Previous pregnancy or child affected by a birth defect or genetic condition
    • Abnormal test results, such as a blood test, ultrasound, Chorionic Villus Sampling (CVS), or amniocentesis
    • Maternal infections, such as Cytomegalovirus (CMV), and other exposures such as medicines, drugs, chemicals, and x-rays
    • Genetic screening that is recommended for all pregnant women, which includes cystic fibrosisexternal icon, sickle cell disease, and any conditions that run in your family or your partner’s family
  • Caring for ChildrenGenetic counseling can address concerns if your child is showing signs and symptoms of a disorder that might be genetic, including
    • Abnormal newborn screening results
    • Birth defects
    • Intellectual disability or developmental disabilities
    • Autism spectrum disorders (ASD)
    • Vision or hearing problems
  • Managing Your Health: Genetic counseling for adults includes specialty areas such as cardiovascular, psychiatric, and cancer. Genetic counseling can be helpful if you have symptoms of a condition or have a family history of a condition that makes you more likely to be affected with that condition, including
    • Hereditary breast and ovarian cancer (HBOC) syndrome
    • Lynch syndrome (hereditary colorectal and other cancers)
    • Familial hypercholesterolemia
    • Muscular dystrophy and other muscle diseases
    • Inherited movement disorders such as Huntington’s disease
    • Inherited blood disorders such as sickle cell disease

Resource and technological advancements have enabled genetic counselling to play a major role in health care of many developed countries and presently its potential is being realized in the less developed countries. But this is still a burgeoning field; it is limited in developing countries, where the duties of counsellors are still being fulfilled by other healthcare professionals without formal specialization.

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