What is genetic counseling and why might you need it?

Genetic testing has become an important medical tool that helps discover the causes of many diseases and understand the likelihood of their transmission among family members. However, choosing the appropriate test and understanding its results can be complex, especially with the many types of genetic analyses and the different genes covered by each test.

This highlights the importance of genetic counseling, which gives individuals and families the opportunity to understand their health status and determine their need for specific genetic testing. It also helps them deal with the results correctly, avoiding anxiety or inaccurate interpretations.

And it offers Enigma Genomics Genetic counseling services are available before and after testing to help select the appropriate analysis, explain the results, and provide necessary guidance based on each individual's health, personal, and family history.

What is genetic counseling?

Genetic counseling is a specialized health service that aims to clarify the relationship between genes and the health status of an individual or family. The counselor or geneticist gathers information about the medical history, reviews medical reports, and studies recurring diseases among family members.

This information helps assess the likelihood of a genetic cause behind a particular disease and determine the need for genetic testing. It also clarifies the probability of the genetic mutation being passed on to children or the presence of other family members who may be at risk.

Enigma's Genetic Medicine service helps individuals and families understand this information in simple language and make informed health decisions.

What is the purpose of genetic counseling?

The goal of genetic counseling is not limited to recommending genetic testing, but includes a range of important medical, psychological, and family aspects.

The specialist explains the nature of the disease or disorder suspected of being genetically linked, how it can be passed down within a family, and discusses the types of tests available, their expected benefits, limitations of each test, and potential outcomes.

The consultation also aims to help the person make their own decision after understanding the necessary information. The consultant does not impose a specific decision or force the person to undergo the examination, but rather provides information and support that helps them choose what suits their situation, values, and needs.

The difference between genetic counseling and genetic testing

Some people believe that genetic counseling and genetic testing are the same service, but there is a clear difference between them.

Genetic testing is a laboratory analysis that looks for changes in DNA, genes, or chromosomes, and may require a sample of blood, saliva, or other cells depending on the type of analysis.

Genetic counseling is a specialized session during which the case and family history are assessed, the most appropriate test is determined, and what the result may reveal is explained.

Therefore, it is explained Enigma Genomics The importance of obtaining expert guidance before and after testing to avoid choosing an analysis that does not cover the genes associated with the condition or misinterpreting the result.

The importance of genetic counseling before testing

Undergoing genetic testing without prior evaluation may lead to choosing a limited analysis that doesn't fit the symptoms or to spending money without getting a helpful answer.

Pre-test genetic counseling helps identify the medical question we are seeking an answer to. If the goal is to diagnose existing symptoms, a specific test may be needed. If the goal is to determine the likelihood of carrying a genetic mutation before marriage or pregnancy, a different type of analysis may be required.

The specialist also explains the possible results, what they might mean for the individual and their family, and the likelihood of needing further testing.

And it provides Enigma Genomics A consultation before the examination to select the most appropriate test based on the person's existing diseases or those within their family.

What happens during a genetic counseling session?

A consultation session usually begins with a discussion of the reason the person requested it, the symptoms they are experiencing, previous diagnoses and tests they have undergone, and the medications they are using.

The specialist may request to see medical reports, previous test results, and reports of family members with the same condition, if available.

Next, information is gathered about parents, siblings, children, and relatives. The specialist may use this information to create a healthy family tree that helps observe the pattern of disease transmission between generations.

At Enigma Genomics, the specialist discusses the types of tests available, the advantages and limitations of each test, and answers questions related to the results and the expected psychological and familial impact.

The importance of family health history

Family history is one of the most important tools used in genetic counseling because the recurrence of a particular disease among relatives or its appearance at an early age may indicate the presence of a genetic factor.

The specialist asks about the types of diseases, ages of onset, cause of death among some relatives, and the presence of congenital malformations, developmental delays, mental disabilities, or recurrent cancerous diseases.

The presence of the disease in more than one individual does not necessarily mean that the cause is genetic, as the family may also share the same environment, habits, and lifestyle. However, this information helps the specialist to assess the probability and choose the appropriate test.

Therefore, it is advisable to gather as much information and reports as possible before the consultation appointment.

People who may need genetic counseling

A person may need genetic counseling if they have a disease suspected to have a genetic cause, or if the same disease is common among family members.

Counseling can be helpful when a child has developmental delays, learning difficulties, birth defects, or unexplained symptoms. It may also be needed by people with a strong family history of certain cancers, heart disease, or neuromuscular disorders.

It is also useful in cases of recurrent miscarriage, the birth of a child with a genetic disease, or when an abnormal result appears in a pregnancy test.

Through Enigma Genomics, health information can be assessed and the appropriate service or test recommended for each case.

Genetic counseling before marriage and pregnancy

Many couples planning to marry or conceive are looking for a way to determine the likelihood of passing genetic diseases on to their children.

A person may be perfectly healthy but carry a gene mutation that does not cause symptoms. When the other parent carries a mutation in the same gene, the likelihood of having a child with the disease increases, depending on how the condition is inherited.

Genetic counseling helps couples understand their family history, learn about available tests, and understand the possible results and options without imposing a specific decision on them.

Enigma Genomics helps couples planning to marry and become pregnant to choose the right test and understand what the results mean for them and their future children.

Genetic counseling in cases of recurrent miscarriage

Miscarriage can occur for multiple reasons, and while the cause is not always genetic, certain chromosomal or genetic changes may contribute to recurrent pregnancy loss.

During the consultation, the specialist reviews the number of miscarriages, the gestational ages at the time of each miscarriage, the results of previous tests, and the medical history of the couple and family.

This assessment may help determine the need for chromosome analysis or other tests as determined by the doctor or specialist based on the individual case.

Counseling alone cannot determine the cause of the miscarriage, but it helps to organize the evaluation process, avoid unnecessary tests, and understand the results more accurately.

Genetic counseling when a child is affected

When a child is born with a genetic disease, birth defect, or developmental delay, the family may feel anxious and confused about the cause of the condition and the likelihood of it recurring in future children.

Genetic counseling helps in reviewing a child's symptoms, medical reports, and test results, and then determining whether genetic testing might help in reaching a diagnosis.

If a genetic cause is identified, the specialist can explain how it is transmitted, the likelihood of it recurring in a future pregnancy, and whether the parents or siblings need to undergo testing.

Counseling also helps the family understand that the occurrence of a genetic disease does not mean that there is a fault or negligence on the part of one of the parents.

Genetic counseling and family cancer

Most cancers are not caused by an inherited genetic change, but the presence of certain signs may prompt a doctor to recommend genetic counseling.

These signs include the appearance of cancer at a young age, having more than one family member with the same type or related types, or having more than one independent tumor.

The specialist helps determine the most suitable person in the family to begin the examination and the type of analysis required, and explains the meaning of a positive or negative result and its impact on health follow-up.

Some relatives may benefit from knowing about a known genetic variant within the family to take preventative steps after consulting a doctor.

The importance of consultation after the result is issued

A genetic testing report may contain complex medical terminology such as pathogenic variant, potentially pathogenic variant, or variant of unclear significance.

Finding a genetic change is not enough to say that a person has a specific disease because the interpretation depends on the type of change, the strength of the scientific evidence, the symptoms, and the family history.

Enigma Genomics offers post-screen consultations to explain the results, clarify their meaning, and determine whether further medical follow-up or testing is needed.

The specialist also explains whether other family members might benefit from targeted genetic assessment or testing.

What does a positive result mean?

A positive result usually means the detection of a gene variant known to be associated with a disease or an increased likelihood of developing it, but its meaning varies depending on the type of disease and how it is inherited.

The result may confirm a diagnosis of an existing condition, reveal a genetic predisposition to a disease that may appear in the future, or prove that the person carries a mutation that can be passed on to their children.

The result does not always mean that the disease will inevitably appear or with the same severity in all people.

Therefore, the result should be interpreted by a specialist and linked to age, health condition, symptoms, family history, and a follow-up plan should be developed in collaboration with the doctor.

What does a negative result mean?

A negative result means that the test did not detect a known change in the genes or regions analyzed, but it does not always rule out a genetic cause.

The change may be present in a gene not included in the test, or in a region that the technology used cannot analyze, or the genetic cause may be scientifically unknown as yet.

The meaning of a negative result is also affected by the testing procedure; if there is a known variant within the family and it is confirmed that the individual does not have it, the result may be more pronounced.

Therefore, a consultation after the examination helps determine whether the result is reassuring or requires further evaluation.

The variable is of unclear significance.

The report may show a genetic change for which there is insufficient scientific evidence to determine whether it is pathogenic or benign; this is known as an unclear-meaning variant.

This result alone should not be used to confirm a diagnosis or make major medical decisions, and its classification may change in the future as new research and information emerge.

The specialist may compare the result with the person's symptoms and family history and may, in some cases, recommend examining other individuals to help gather additional information.

Genetic counseling prevents misinterpretation of this result and helps the individual understand the limits of available knowledge.

Psychological support during genetic counseling

The possibility of having a genetic disease may trigger feelings of anxiety, fear, or guilt, especially if the person feels they have passed on a genetic change to one of their children.

A genetic counselor helps to present information in a balanced way and to clarify that the transmission of genes is a biological process that is not controlled by the parents and does not represent a mistake on the part of any individual.

The session also helps the person prepare psychologically for the possible outcomes and discuss the appropriate way to share information with family members.

Psychological support is an important part of the service, but it does not replace seeking help from a mental health professional when anxiety is severe or persistent.

How can a family benefit from genetic counseling?

The benefit of the consultation does not stop with the person who underwent the test, because family members share a portion of genetic material and the result may contain important information for relatives.

If a pathogenic genetic change is detected, it can help the specialist identify relatives most likely to carry the change and who among them needs targeted testing.

Supports Enigma Genomics Families need to understand how the disease is transmitted and how to share genetic information clearly while respecting privacy.

Early detection in some relatives may help in initiating follow-up or taking preventive measures before symptoms appear, according to the doctor's recommendations.

How to prepare for a consultation session

Preparation for the session can be done by gathering medical reports, previous test results and genetic analyses, and writing a list of existing medications and diagnoses.

It is helpful to gather information about illnesses that affected parents, siblings, children, grandparents, uncles, aunts, maternal uncles, and maternal aunts, along with knowing the age of onset of the illness if possible.

Questions can also be written in advance, such as what type of test is appropriate, what the result might reveal, how it might affect children, and whether other individuals need to be tested.

The more accurate the information, the more useful the assessment of the case and the family can be provided by the specialist.

Why choose Enigma Genomics?

Choosing Enigma Genomics gives individuals and families access to pre- and post-test genetic counseling with specialists who help review medical history, recommend appropriate analysis, and explain results.

The session will cover the individual's or family's existing medical conditions, available medical reports, types of tests, the benefits and limitations of each test, and potential outcomes.

The consultation after the examination also helps in understanding the meaning of the result and guides towards follow-up, prevention, or treatment options that should be discussed with the doctor.

The service provides important support for those who feel anxious or confused by the abundance of tests and complex genetic terminology.

Genetic counseling is a health service that helps individuals and families understand the likelihood of having a genetic disease, choose the appropriate test, and accurately interpret the results.

You may need it if there is a recurring illness in the family, a child with developmental delays or a birth defect, recurrent miscarriages, a family history of cancer, or when planning marriage and pregnancy.

The importance of consultation before the examination increases in order to determine the most appropriate analysis, and afterward in order to understand the meaning of the result and its impact on the individual and their relatives.

This content is for informational purposes only and does not constitute a medical diagnosis, nor does it replace consultation with a doctor or genetic counselor.