What is Genetic Counseling? Information You Should Know

5 Facts about Genetic Counseling

  1. Purpose: Genetic counselors are health professionals that help you assess if you are from a family with a history of genetic order and how you can live your life with minimum interference from the disorder.
  2. Specialist: A genetic counselor can help you understand certain genetic conditions and how likely you are to carry them. A genetic counselor will always check your medical records and family health history.
  3. Process: Traditionally, a genetic counselor works to review your personal and family histories at an initial consultation. If they determine genetic testing is right for you, they will discuss the various options. You will then attend a follow up appointment to interpret the results and determine next steps. 
  4. Method of counseling: Top genetic counseling platforms offer both offline and online appointments.
  5. The next step: Based on the information provided, a genetic counselor will help you whether you or your relative should have a genetic test. 

What is Genetic Counseling?

Genetic counseling is the process of families and individuals receiving advice from certified genetics specialists with clinical training to help them enhance understanding and design a plan to address the medical, psychological, and familial implications of genetic contributions to disease.

It may be recommended if you have noticed a particular condition or disease creating a heritable pattern in your family roots. Genetic counseling, when received early, helps you tackle problems early and reduce its impact. A genetic counselor is the main specialist responsible for counseling you and your family (if need be) about a possible trend of a disorder and would help determine if there is any need for a genetic test. 

A genetic counselor
Genetic counselors have special education and training in genetics. Ilmicrofono Oggiono. Flickr

According to the Centers for Disease Control and Prevention (CDC), genetic counseling provides information about how genes might affect you and your family. The counselor will collect your personal health history as well as your family history. They can use this genetic information to determine whether there is a potential genetic condition in your family and may recommend genetic testing. 

There are different stages of your life in which you might want genetic counseling and different specialists in these areas. These categories include prenatal, pediatric, cancer, and general proactive health.

Stages for Genetic Counseling

While it may be beneficial to receive genetic counseling at any time in one’s life, there are several deciding stages of life where it is more important and a great option to get it.

Reproductive health

This type of counseling focuses on genetic risks or conditions that can be passed from parent to child during pregnancy. Everyone has certain genetic mutations that most of the time do not affect our health. However, sometimes inherited gene mutations can cause or increase the risk of a genetic disorder in our offspring. To prepare, couples trying to get pregnant offer use genetic counseling to assess this risk. 

There are two types of reproductive genetic counseling: preconception (before pregnancy) or prenatal (during pregnancy).

Preconception testing: While most pregnancies go exactly as planned, some babies are at a greater risk of being born with a genetic condition. If you are aware of a genetic disease in your family or worry you might be a carrier, it is usually a good idea to talk with a genetic counselor before trying to become pregnant. These specialists can help analyze the risk and make plans for a pregnancy. 

Couples struggling to conceive may also be interested in seeing a genetic counselor. In total, about 10-15% of couples experience infertility. In most cases where other causes have been ruled out, genetics may play a role. Genetic services can help identify the problem. 

Some specific areas that are covered during this stage of counseling include:

  • Genetic birth conditions that run in both you and your partner’s families
  • History of infertility, miscarriages, or stillbirth
  • Previous pregnancy or child affected by a birth defect or genetic condition

Prenatal testing: Genetic counseling is also highly recommended when you are pregnant to test for certain genetic conditions that may affect pregnancy or the birth. Tests at this stage can also help detect problems that may affect your child during infancy and childhood. Having a genetic test done at this stage can help you have a healthier pregnancy and plan for the stage after birth.

A 12 week ultrasound. Genetic counseling can help diagnose conditions before birth
An ultrasound at 12 weeks of pregnancy. Wikipedia. CC-Attribution-Share Alike 3.0 Unported.

This stage of counseling will help you know if you need tests to know if you are vulnerable to:

  • History of infertility, miscarriages, or stillbirth
  • Previous pregnancy or child affected by a birth defect or genetic condition
  • Maternal infections, such as Cytomegalovirus (CMV), and other exposures such as drugs, medicines, x-rays, and chemicals.

There are certain genetic screening tests recommended for all pregnant women including cystic fibrosis, external icon, sickle cell disease, and any conditions that run in your family or your partner’s family. These screening procedures can be performed with any commercial genetic test recommended by your genetic counselor or health care provider.

The genetic tests at this stage are diagnostic and must be performed by specific companies equipped for these types of tests. Your genetic counselor will be able to recommend certain tests based on your specific health history. Some medical genetics testing companies that offer reproductive health tests include:


You may consider a genetic counseling session if you have any concerns about your child showing symptoms or signs of a genetic disorder. Parents may request genetic counseling for their child of any age, from newborns to young adults showing symptoms for the first time. 

Common reasons a pediatrician may recommend genetic counseling include birth defects, disorders of growth, neurobehavioral disabilities and/or non-familial physical features.

A genetic test can help parents and their family understand symptoms and diagnose certain conditions. With a proper diagnosis, families can plan for specific medical needs and take advantage of school programs and support groups. A positive diagnosis can also help you assess genetic risk of other family members. 

A smiling baby. Genetic counseling can help diagnose infants and children at any age.
Genetic testing can be performed at any age. Wikipedia. CC-Attribution 2.0 Generic.

Some common genetic disorders that are normally diagnosed in children include:

  • Chromosome abnormalities, such as Down syndrome
  • Fragile X syndrome, an inherited form of intellectual disability
  • Cystic fibrosis, an inherited lung and digestive condition
  • Inherited blood disorders, such as sickle-cell anemia and thalassemia
  • Muscular dystrophy, different inherited muscle diseases
  • Phenylketonuria (PKU), an inherited disease of the metabolism

General health

Most adults start to consider genetic testing after developing symptoms of a disorder shared by family members. Specialties in this field include counselors for cardiovascular, psychiatric, and cancer. If you have a family history of these conditions, genetic counseling may be recommended by your primary care doctor. Some companies specialize in other inherited diseases as well. 

Cancer: An increased risk for certain cancer types, such as breast, ovarian, colon or prostate cancer, can be inherited. Understanding your risk can help you develop a plan that usually involves early or more frequent screening to assist early detection. 

Interested in genetic testing for hereditary cancer? You may be interested in these posts:

Cardiovascular: Certain heart conditions can be hereditary, including heart rhythm problems (arrhythmia), heart muscle problems (cardiomyopathy) or high blood pressure and cholesterol. If you are at an increased risk of heart disease, you may be referred to a cardiologist for further testing and monitoring. Like cancer, more frequent testing can aid in an earlier diagnosis.  

Psychiatric: There is often a stigma associated with mental illness. Specialists who advise patients in psychiatric genetic counseling help affected individuals get the treatment they need. Mental disorders linked to genetics include schizophrenia, bipolar disorder, and OCD, and a slightly smaller role in alcoholism, panic disorder and major depression. Genesight and Genomind are two genetic testing companies that analyze how your genes may affect the effectiveness of drugs for mental health.

DNA in test tubes
Adult genetic testing usually focuses on cancer, cardiovascular disease, and mental health. Pixabay.

Based on your symptoms and genetic testing, your genetic counselor may recommend genetic testing. A follow up session will help you understand your results, discuss treatment options, and address the psychological effects of the condition on yourself and your family. 

Finally, an appointment with a genetic counselor does not have to occur after symptoms start. Many people choose to take a proactive approach to genetic testing, even if they don’t have a known family history of a condition. People who do not know their family history of disease may be especially interested in a proactive genetic test. 

Additional at home testing kits that cover a wide range of conditions can be ordered with a doctor’s referral:

  • Ambry Genetics (risks of various disease types)
  • Color (risks of cancer, genetic forms of heart disease, and medication responses)
  • Pathway Genomics (DNA tests for various health aspects, may be used in consultation with medical providers)

Genetic-based Platforms and Health Services that offer Genetic Counseling 

As stated before, it is important to register with a top genetic counseling platform and find a genetics provider with a good reputation. The best companies will work with Certified Genetic Counselors who have passed the American Board of Genetic Counseling (ABGC) certification. Many companies offer special services for individuals and for families.

Genome Medical

Genome Medical is one of the top genetic-based platforms where you will be able to connect with top experts and certified genetics specialists to walk you through all of your options. This platform provides visitors a great user experience with an easy-to-navigate website, trusted experts, and various options to fit your needs.  

The platform provides its services virtually, including online scheduling and virtual consultations. They also have a great reputation for simplifying information. These services will help you understand your risks, help you decide if genetic testing is right for you, interpret genetic testing results, answer questions, and assess whether family members should also get tested. 

Options from Genome Medical
Genome Medical offers various options to fit you and your family’s needs.

Genome Medical offers services on reproductive health, pediatrics, cancer, cardiovascular health, proactive health, as well as pharmacogenetics. 

It is available in all 50 United States. According to their website, patients with insurance pay an average of $50 per visit. For those who pay out-of-pocket, each session will cost as little as $179. 

Gene Matters

Gene Matters is also one of the top platforms for expert-led genetic counseling services. This company partners with hospitals, health networks, genetic testing labs and biopharmaceutical organizations to offer services to their patients. Therefore, you must access these services through a partner company and not as an individual. 

The company offers a personalized user experience and through their telehealth platform that helps clients assess a particular inherited disorder and how much effect it may have on their children and their childrens’ risk of getting the disorder. 

When patients are referred to Gene Matters through a partner organization, they receive a 30- to 60-minute phone or video consultation to help understand risk based on family history, decide if genetic testing is recommended, understand genetic test results if available, and make informed healthcare decisions. A summary of the discussion and recommendations are provided to the recommending doctor within 24 hours. 

Gene Matters offers services on reproductive health, pediatrics, cancer, cardiovascular health, and neurology, as well as rare diseases. 

Options from Gene Matters
Gene Matters offers various health specialties.

Payment options are flexible and unique to the partner organization based on organization needs and patient volume.

ACT Genetics

ACT Genetics is also a highly regarded evidence based genetic testing service. Through their telehealth consultations, they aim to reach patients all over, including urban and rural areas. This company takes a personalized approach to genetic counseling, focusing on building a relationship with their patients to provide the highest level of care. 

ACT Genetics logo
ACT Genetics logo

They offer specialty genetic counseling services by licensed, certified expert professionals in pharmacogenetics, Huntington disease, ALS, and cancer. 

Most presymptomatic consultations are 60 minutes with a genetic counselor and can be scheduled by an individual without needing a doctor’s referral. Initial consultations range between $150-$200. Results consultations that help you interpret genetic testing results if recommended cost $150 for most conditions. Optional follow up appointments are available at $50 per 30 minutes. Customers are billed directly. ACT Genetics accepts all major credit cards and HSA. Information for insurance reimbursement is provided upon request. 

If a condition has been ruled to be genetic, this company will let you know the test needed and also refer you to advanced health care providers and support groups if need be.

Nebula Genomics

Nebula Genomics is one of the top genetics testing platforms to get some of the top easy to perform at home genetic test kits. We offer 30X Whole Genome Sequencing (WGS), which is the most comprehensive genetic testing available that reads your entire genome. Most other genetic tests only read 0.2%, but WGS reads 100%. 

Nebula Genomics data is of the highest quality, meaning that you can take it to your medical provider or a genetic counselor and have the results professionally interpreted. Plus, the Nebula Research Library keeps users up to date with the latest genetic discoveries when it comes to their health. New health reports are updated weekly, meaning that you can continue to discover more insights into your health throughout your lifetime. 

For more information, you may want to check out the National Society of Genetic Counselors, an authorized provider of continuing education for genetic counselors.

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