
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
- 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 of conception (≥35 years).
- History of exposure to certain drugs or medicines, chemicals, or X-rays.
- Personal or family history of hereditary conditions such as sickle cell disease, birth defect, or cancer.
- Carrier ability of certain hereditary disorder, for example, a mother carrying abnormal genes of hemophilia (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 a genetic disorder such as
- Cystic fibrosis (damage to the lung and digestive 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 lip or roof of the mouth.
- Heart problems.
- Short height.
- Hearing or vision problems.
- Learning disabilities.
- Mental health problems.
- 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, 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?
- 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.

SLIDESHOW
The 14 Most Common Causes of Fatigue See SlideshowHealth Solutions From Our Sponsors
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
Top Who Should Get Genetic Counselling? Related Articles
Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
- DJD: Degenerative joint disease. Another term for osteoarthritis.
- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- p.o.: By mouth. From the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- RA: Rheumatoid arthritis
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
Down Syndrome
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.Family Health History: Genetics, DNA Testing and Your Health
WebMD explains why your doctor asks about your relatives' health conditions and how you can get the information if you don’t know.Genetic Diseases
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).11 Surprising Things Your Genes Say About You
Explore what role DNA plays in your health, love life, and more in this WebMD slideshow.What Is the Life Expectancy of Someone With Noonan Syndrome?
There is a wide range in the severity of signs and symptoms in people with Noonan syndrome (NS). Therefore, the prognosis (long-term outlook) of this disease may vary in every case. The life expectancy of a person with NS is likely to be normal if serious heart defects are absent.What Is the Life Expectancy of Someone with Williams Syndrome?
Williams syndrome is a genetic disorder that affects approximately one in 25,000 births. Early intervention is the key to a long lifespan with this disease and can it also improve quality of life.What Is the Life Expectancy of Someone With Osteogenesis Imperfecta?
Osteogenesis imperfecta (OI) or brittle bone disease is a group of rare disorders characterized by extremely weak bones. The life expectancy of a person with osteogenesis imperfecta (OI) greatly depends on the type of the disease. In the most severe form of OI called type II or perinatally lethal OI, the baby is born with multiple broken bones. Those born with the less severe form of the disease, such as type I OI, may lead a healthy life. Their life expectancy is not shortened because of the disease.What Are the 3 Functions of the Nucleus?
The nucleus (pleural nuclei) is the most prominent and largest organelle in the cell. The three major functions of the nucleus include the regulation of cell metabolism and it serves as the site that houses the genetic material, DNA, as well as the site where RNA is produced.While you cannot control your genes, gender, or age, you can increase your metabolism. Here are 7 ways to boost your metabolism.
What Foods to Avoid If You Have G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) is a genetic (hereditary) disorder. Therefore, you cannot prevent it. However, you can prevent the more serious G6PDD symptoms by avoiding certain foods such as fava beans, aniline dyes and certain medications.What Is the Life Expectancy of Someone With Coffin-Siris Syndrome?
Coffin-Siris syndrome (CSS) is a rare hereditary condition noticeable from birth (congenital). Most people with Coffin-Siris syndrome (CSS) live relatively long lives. The lifespan of affected individuals varies widely depending on the person’s level of physical and mental development and the severity of the illness. Medical care increases the quality of life and lifetime of people with CSS.Who Is the Oldest Progeria Survivor?
Tiffany Wedekind of Columbus, Ohio, is 45 years old as of 2023, making her the oldest survivor of progeria, also known as rapid aging disease. It is believed that Wedekind's progeria differs slightly from that of others with the disease, which explains her surprising age. The reason Tiffany Wedekind's progeria remained undiagnosed for so long was that she never had any health issues other than her teeth falling out. However, Wedekind has health problems and heart problems caused by progeria.