Who Should Get Genetic Counselling?

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

You may get genetic counseling for premarital health issues while planning apregnancy, duringpregnancy, for yourchild healthissues, adult disease management, andcancer 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 ofinfertility.
  • History of multiple miscarriages orbabiesthat 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 toradiation, medicines, illegaldrugs, infections, or chemicals.
  • Having abnormal blood tests orultrasoundfinding results.

During pregnancy:在怀孕的夫妇可能需要遗传咨询nancy who have

  • History of infertility.
  • Multiple pregnancy losses or the death of a baby just after birth.
  • Unexpected abnormal results of a blood test, placenta test, ultrasound, or other.
  • Older age at the time ofconception(≥35 years).
  • History of exposure to certain drugs or medicines, chemicals, orX-rays.
  • Personal or family history of hereditary conditions such assickle cell disease, birth defect, orcancer.
  • Carrier ability of certain hereditary disorder, for example, a mother carrying abnormal genes ofhemophilia(a blood clotting disorder).
  • An unborn baby diagnosed with a birth defect or genetic condition.
  • Health issues, especially a mother with
  • Brain or mood disorders.
  • Blood disorders.
  • Infection, for example,cytomegalovirus.
  • Immune system disorders.
  • High blood pressure.
  • Seizures.
  • Alcoholism.
  • Diabetes.
  • Thyroid (a neck gland) disorder.
  • A previous child with agenetic disordersuch as
  • Cystic fibrosis (damage to the lung anddigestive system).
  • Down syndrome(developmental and intellectual delay).
  • Fragile X syndrome(a condition causing intellectual disability).
  • Hemochromatosis(too much iron in the body).
  • Hemophilia(blood clotting abnormality).
  • Huntington’s disease (the progressive breakdown of nerve cells).
  • Muscular dystrophy (progressive loss of muscle mass).
  • Neural tube defects (birth defect of embryonic brain and spine precursor).
  • Cleft lipor roof of the mouth.
  • problems.
  • Short height.
  • Hearingor vision problems.
  • Learning disabilities.
  • Mental healthproblems.
  • Cancer.
  • Diabetes.
  • Seizure.

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, andcancerto 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 gutcancers).
  • Familial hypercholesterolemia (condition of increasedcholesterol).
  • Muscle disorders and muscular loss.
  • Inheritedmovement 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 breastor 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 (runningin 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 andpreventionand 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
  • Recreationaldrug usefor 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 thedietmay 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 asheart transplantfor the birth heart defect,bone marrow transplantfor defective blood cell formation diseases (sickle cell disease),cleft palate, and clubfoot may improve the particular symptoms associated with disorders.
  • Familial breast cancergene (BRCA1andBRCA2) 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.

QUESTION

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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