Genetic Counseling (A complete guide)

In the following article, we will address the issue of genetic counseling, what are the risks and limitations of genetic testing and whether or not this is something you should take into consideration.

How do we define Genetic Counseling? 

We define genetic counseling as the process by which the medical history of a person, sometimes of a family, is researched and analyzed.

The purpose of this investigation is to help both psychologically and medically, families and individuals who have a certain risk of developing a genetic disease.

The consultation process includes analysis of the family’s medical history, testing, counseling, and resources to adapt to the risk or the genetic condition. 

What happens during a genetic consultation?

During a genetic consultation, a doctor that is specially trained in genetics will inform the family of any risks, will diagnose, confirm or rule out a genetic condition.

Genetic consultation and testing can also be performed by a genetic counselor, which is a healthcare worker with experience in both medical genetics and counseling. 

Contrary to popular belief, a genetics professional cannot make any decisions for a family.

A specialist will not ever recommend a woman to continue or end a pregnancy.

Neither a doctor or a genetics counselor can force you to undergo any testing for a genetic disorder if do not wish so. 

The main goal of genetic counseling is to increase understanding of genetic diseases.

At a consultation, the genetic professional can interpret complex medical information and guide the family towards an informed decision.

Ultimately, the individual or the family are who decides what the next step should be.  

Consultations and testing can take place in a doctor’s office, a genetics center or other types of medical centers.

Results can take weeks to be processed and can be delivered either by phone or in person.  

Who should take into consideration genetic counseling?

Genetic counseling should be taken into consideration by everyone concerned about their own health and wellbeing.

Some specialty areas such as infertility, psychiatric genetics, cardiovascular genetics, as well as hereditary cancer genetics, are especially helpful in the prevention and risk assessment stage. 

You should take into consideration genetic counseling: 

  • If you are having any symptoms or a family history of a genetic disorder, you should contact a doctor or a counselor in genetics as soon as possible. A professional can guide and inform you of the risks, diagnose and help you adjust through any changes.
  • If you are planning for a pregnancy and want to know more about genetic risks that run in your family or your partner’s family. If you have a history of miscarriages or a previous pregnancy was affected by a genetic disease. 
  • If you are pregnant and want to rule out any problems or conditions that might affect the development of your pregnancy. If you get an atypical blood test result or ultrasound. Prenatal genetic testing is strongly recommended to all women who have a medical history of genetic diseases either in their family or the partner’s family. 
  • Pediatric genetic counseling might be indicated to newborn, infants and children who are born with a congenital anomaly, intellectual disabilities (learning disabilities, autism) or known genetic disorders (e.g. Down syndrome). 

Genetic counseling and Cancer management

Consulting an expert in cancer genetics and cancer management is the right way to ensure you get the best and most accurate information there is.

From the first counseling session you will find out what the benefits and the limitations of genetic testing are, you will also have the opportunity to discuss your concerns with an expert in the field. 

The counselor will want to know everything cancer related to your family history such as: who in your family has been diagnosed with cancer and who not, age of onset for any cancer diagnostics in the family, or any other health information you might see as relevant. 

A counselor will not convince you into taking genetic testing, however, if you do decide to proceed with it, the next step of the consultation would be a blood collection or a cheek swab that will be sent to the closest laboratory for analysis. 

Keep in mind that it might take a few weeks before the results will return from the lab, so don’t worry too much, this is common.

Once the counselor has your results you will most likely have to come again in order to discuss the outcome. 

This appointment is important since the genetics counselor will explain and interpret your test results.

You will learn about risk management and treatment options. 

Genetic Testing for Cancer Risk

If you have a personal or family history of cancer you should seriously consider getting a test that can reveal any specific genetic change.

The result of a genetic test will help to diagnose and manage a potential disease. 

The thought of getting tested might be scary, it can also create a state of anxiety, insecurity or family tension.

This is where a genetic counselor steps in to help you manage the negative emotions and guide you towards the best decision for your mental and physical wellbeing. 

How can a genetic counselor help?

A genetic counselor can help you by supporting and referring you to resources for people at risk of developing cancer, people diagnosed with cancer or their family members.

The counselor will interpret the results and will advise you on how to communicate with your family, friends and medical team about the results. 

What should I do before an appointment with a genetics counselor? 

Before an appointment with a genetics counselor, you should gather your family’s medical history.

Try to collect as much information as possible and don’t omit anybody: parents, grandparents, aunts and uncles, siblings and cousins.

You should know everything about any birth defects in your family, diseases that your family members are diagnosed with and at what age were they first diagnosed with a specific condition.   

Of course, your health is the most important, so don’t forget to bring all the information about your medical history!

The risks and limitations of genetic testing

Many of the risks and limitations of genetic testing are related to the emotional stress and the financial consequences of the test results.

The whole process of getting tested is putting a lot of pressure on some of the families, sometimes creating tension between some members of the family.

Moreover, everyone fears the result. They are just one phone call away from changing their lives permanently. 

The physical risks associated with genetic testing are relatively small.

Usually, you just have to give a blood sample, which is a relatively simple and not so invasive procedure.

However, there is a small but very real risk of miscarriage when genetic testing is done during pregnancy since a sample of amniotic fluid or tissue from around the fetus is required. 

A limitation of genetic testing is the limited quantity of information it provides.

The test can’t often guarantee if a person will show symptoms or not, how bad those symptoms are going to be, if and how the disease will progress over time. 

A genetic counselor will explain in detail what the benefits of getting tested are versus all the risks and limitations.

It is important for someone to know and take into consideration all the information that’s available about genetic testing.

Any decision should be taken only by the beneficiary. 

Does health insurance cover the costs of genetic testing?

Your health insurance will cover the costs of genetic testing if the testing is recommended by your doctor.

However, there are many insurance companies and each has its own policy on which test is covered.

It is best to check with your insurer beforehand. 

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Conclusion

In this article, we addressed the issue of genetic counseling.

We found out that genetic counseling is a process that includes analysis of a family’s medical history, testing, guidance and resources that are given to an individual or a family that is at risk of or is diagnosed with a genetic disorder.  

In order to prepare for an appointment, you should gather as much information about you and your family’s medical history as possible.

A genetics counselor can only advise and give you all the options, but the decision for treatment is yours to make. 

Genetic testing involves small risks, but some of them like emotional stress and the financial consequences can feel very real.

Your genetics doctor or counselor will present you with the benefits and the risks of any procedure you might undergo. 

Now that you know more about genetic counseling and considering the risks of genetic testing, would you be interested to undergo such a procedure?

Are the benefits of more relevance than the testing’s limitations? 

Please do answer my question and let me know what you think about genetics counseling in the comments section below. 

Frequently Asked Questions

What is included in genetic counseling?

Genetic counseling includes risk assessment, genetic testing, and diagnosis.

Genetic counselors collect information about the family’s medical history and assess a individual’s risk of inheriting a genetic disease, typically by getting a sample of one’s blood or saliva. 

Who should get genetic counseling?

Genetic counseling should be taken into consideration by individuals who have on or more of the following risk factors: a history of genetic diseases in the family, abnormal results during prenatal testing such as blood tests, ultrasounds or amniocentesis. 

What is the role of a genetic counselor?

The role of a genetic counselor is to help the individual or the family understand the genetic testing and to guide them through the process in order to help them make informed choices. 

How long does genetic counseling take?

A genetic counseling session takes between 30-60 minutes.

Depending on the problem, the genetic counselor will guide you through the process and will recommend the next steps. 

Why is genetic counseling recommended?

Genetic counseling is recommended because it helps people adapt and it prepares them for any symptoms, conditions, and risks.

Genetic counselors are the best trained in their field and many times their role is to guide and advise families that perhaps don’t understand a diagnostic or do not know what should they do next. 

What happens during genetic counseling?

During genetic counseling, a doctor trained in genetics or a genetics counselor will check your medical history for any genetic diseases, also you can get tested if you choose so.

In another appointment, the counselor will evaluate the result of your test.

Recommended resources

  1. A guide to Genetic Counseling 
  2. Lifespan: Why we age, and why we don’t have to
  3. Mental Wellness in Adults with Down Syndrome
  4. Overcoming a bad gene
  5. Dirty genes: A breakthrough Program

References

  1. What happens during a genetic consultation
  2.  Reasons for genetic counseling
  3. Genetic counseling services 

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