Genetic disorders are mostly incurable.
Genetic disorders are mostly incurable.

You may get genetic counseling for premarital health issues while planning a pregnancy, during pregnancy, for your child health issues, adult disease management, and cancer care.

Pregnancy planning: The majority of couples do not need genetic counseling. However, some may need genetic counseling who

  • Are planning their first pregnancy.
  • Need discussion on other pregnancy options such as assisted reproductive technology (ART).
  • Wish to understand the disease susceptibility to their future child.
  • Want to assess and understand any potential risks associated with
  • Genetic conditions that run in their family.
  • History of infertility.
  • History of multiple miscarriages or babies that died in infancy.
  • A previous child with a birth defect and developmental or intellectual disabilities.
  • Family members with an intellectual disability or birth defects.
  • Increasing parental age (>35 years).
  • Concerns about the risk of pregnancy due to health or lifestyle.
  • An ethnic or racial group. 
  • Concerns about their exposure to radiation, medicines, illegal drugs, infections, or chemicals.
  • Having abnormal blood tests or ultrasound finding results.

During pregnancy: Couples may require genetic counseling during pregnancy who have

Childcare: A genetic counselor may address concerns if your child has

  • Development delay or disabilities.
  • Intellectual disabilities.
  • Autism (developmental impairment of communication skill).
  • Multiple health problems.
  • Birth defects.
  • Abnormal physical features or screening results.
  • Vision or hearing issues.
  • Suspected genetic condition.
  • Family history of a genetic condition.

Adult health management: Genetic counseling is helpful for adults with a cardiovascular, psychiatric condition, and cancer to evaluate

  • Adults and their children’s risk of genetic disorders.
  • Genetic testing to predict or diagnose their condition early.
  • Management of their health.
  • Symptoms of conditions that they may have or have a family history that includes
  • Hereditary breast or ovary (woman sex organ) cancer.
  • Lynch syndrome (hereditary gut cancers).
  • Familial hypercholesterolemia (condition of increased cholesterol).
  • Muscle disorders and muscular loss.
  • Inherited movement disorders.
  • Inherited blood disorders.

Cancer disease: Genetic counselors can determine the risk of cancer or whether it runs in an individual’s family, who has

  • Cancer of the breast or gut (colon), under the age of 50 years.
  • A close relative with cancer.
  • More than one primary cancer or type of cancer.
  • A rare type of cancer or tumor.
  • Cancer with known mutation (genetic change).
  • Familial susceptibility to cancer.
  • Ethnicity associated with a higher frequency of hereditary cancers.

What is genetic counselling?

Genetic counseling is the process that helps you in determining hereditary or genetic (running in your family) problems that might affect you or your family. It is done by a trained professional.

It involves the following steps:

  • Checking or reviewing your medical history, family history, and pregnancy history
  • Identifying and interpreting the increased risk of inherited disorders or passing on a hereditary disease to your unborn baby
  • Suggesting and organizing genetic tests
  • Evaluating and providing information about test results
  • Providing information about management and prevention and helping in the decision-making process

Genetic counseling sessions may last for an hour and may vary based on your specific health problem and family history.

What causes a genetic disorder?

Causes include:
  • Defects in the chromosomes (small bodies carrying reproductive instructions of a cell)
  • Mutation (spontaneous permanent changes) in the DNA (a molecule carrying instructions of living being make-up)
  • Environmental exposure to chemicals or radiation
  • Developmental defect of the sperm or egg
  • Recreational drug use for long term
  • Industrial chemical exposure

How are genetic disorders treated?

Genetic disorders are mostly incurable. These are results of a change in genes that are the functional unit of body cells. They affect many organs. However, management of symptoms can be possible with the following approaches:

  • Many genetic conditions occur due to inborn errors in metabolism. Avoiding certain substances in the diet may prevent the build-up of potentially toxic substances. 
  • Enzyme replacement therapy may help to manage the conditions or prevent future complications.
  • Surgery for certain genetic conditions such as heart transplant for the birth heart defect, bone marrow transplant for defective blood cell formation diseases (sickle cell disease), cleft palate, and clubfoot may improve the particular symptoms associated with disorders.
  • Familial breast cancer gene (BRCA1 and BRCA2) mutation (changes) can be screened in all family members and can be prevented by removing the cancer cells by breast surgeries before growing it as cancer.
  • Most of the treatment strategies include gene therapy that is still in the experimental stage; this involves changing a person’s defective genes that may be helpful in the future for many genetic disorders.

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Medically Reviewed on 10/13/2020
References
WHO https://www.who.int/genomics/professionals/counselling/en/

NIH: https://ghr.nlm.nih.gov/primer/consult/reasons

CDC: https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm

American pregnancy association: https://americanpregnancy.org/getting-pregnant/genetic-counseling-70949

National society of genetic counsellors: https://www.nsgc.org/page/frequently-asked-questions-students

Australian government, department of health: https://www.pregnancybirthbaby.org.au/genetic-counselling

Standford children’s health: https://www.stanfordchildrens.org/en/topic/default?id=when-to-seek-genetic-counseling-90-P02118

American academy of paediatrics: https://www.healthychildren.org/English/ages-stages/prenatal/Pages/Prenatal-Genetic-Counseling.aspx

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