Genetic Counseling - Indications, Benefits, and Policies

Introduction

Genetic counseling is a process of advising people and families who are affected by or at risk of genetic disorders to help them adapt and understand the psychological, medical, and familial implications of genetic contributions to genes. Genetic counseling provides concrete and accurate information about inherited disorders and helps people who are affected by inherited diseases to make informed choices about future reproduction. It also helps to educate people about inherited disorders and the pattern of inheritance. The process integrates the interpretation of the family and medical histories to assess the chances of disease occurrence or reoccurrence.

What Are the Indications for Genetic Counseling?

Genetic counseling can be done for the following reasons-

• Hereditary disease in a patient or family.

• Birth defects.

• Mental disorders.

• Early onset of cancer in a family.

• Miscarriages.

• Malformations.

• Tendency to develop a neurological condition.

• Advanced maternal age.

What Are the Steps of Genetic Counseling?

The steps involved in genetic counseling are as follows-

1. Diagnosis - The first step required for proper diagnostic counseling is the correct diagnosis of the disease. The medical diagnostic persons will analyze the genetic background of the persons involved and assess the suspected disease that their child can develop.

2. Prognosis - It refers to the judgment about how something is likely to develop in the future. The medical diagnostic persons will explain to the person in question about the chances of their child developing a disease.

3. Treatment - The medical diagnostic person will provide a correct treatment plan to the individual and guide them about all the possible treatment options.

What Is the Role of a Genetic Counselor, and How Is the Counseling Done?

Genetic counselors are board-certified healthcare professionals who have specialized education in medical genetics and counseling. Their role is to provide information about genetic conditions that can help patients make informed decisions about their genetic health. Genetic counselors work in a variety of specialties, such as preconception, prenatal, pediatric, cancer, cardiovascular, neurology, and research. Consulting a genetic counselor can help understand certain medical conditions that can affect a person and their family. During a genetic counseling session, a genetic counselor will ask questions about personal and family medical history.

Genetic counseling may also include discussions about genetic testing options available, including the benefits, limitations, and risks of testing. The genetic counselor will provide information about conditions of concern which may include the likelihood of inheriting certain conditions in a family and how that might affect the health of the concerned member. The genetic counselor will then review possible options for treatment or medical management changes that may improve the health. They will also provide resources to the patient to support them and inform them regarding possible opportunities to participate in research. A summary of the session is shared with the patient at last. The sessions can be provided in a private clinic or hospital or through a telephone or video consultation.

What Are the Types of Genetic Counseling?

There are two main types of genetic counseling-

• Prospective- A screening test is done to cover the number of recessive defects. If the screening tests come abnormal, the patient is advised to undergo genetic counseling.

• Retrospective- This type of counseling is done after a certain condition has occurred, like a child born with birth defects, pregnancy termination, sterilization, etc.

What Are the Benefits of Genetic Counseling?

The importance of genetic counseling is explained below-

1. Increased Understanding - Genetic screening tests can help know the likelihood of a fetus being born with Down’s syndrome (genetic disorder causing abnormal cell division and producing an extra copy of chromosome 21), cystic fibrosis (inherited disease that cause lung damage), Tay-Sachs disease (inherited disorder that cause damage to the nerve cells of brain and spinal cord), or sickle cell anemia (disorder that cause blood cells to breakdown).

2. Better Peace of Mind - For parents who are aware about a family history of a particular condition or disease, it can be beneficial to know that they do not carry that gene.

3. Early Intervention - In some cases, genetic testing can uncover a hidden gene mutation that puts an individual at risk of developing a deadly disease. Genetic counselors help to understand the cause of the condition and methods to prevent it from developing or spreading.

4. Appropriate Testing - A genetic counselor can help people determine what tests are most appropriate.

5. Decision Making - Genetic counselors help to understand diagnosis, testing options, and underlying causes of genetic disorders and also guide through any decision-making regarding genetic testing or family planning.

What Are the Ethical Issues Faced in Genetic Counseling?

There are some ethical issues that are often faced during genetic counseling, such as-

• The right to know or not know is a debatable issue in genetic counseling. This term refers to the information that the patients want to know or do not want to know.

• Any involvement of other members of the family in the decision-making process of the involved individual might hamper the outcome.

• There are some cases in which the confidentiality of the patient’s information might get overruled to help prevent health damage to other people.

• There are certain diseases and conditions for which genetic testing is not permitted.

• The inclusion of minors in genetic testing is controversial.

What Are the Policies of Genetic Counseling?

There are a few policies upon which genetic counseling relies, that include-

• The patient has the right to make their own medical decision without the judgment of others.

• The genetic counselor can only guide in making decisions and not involve themselves completely in the decision-making process.

• Every patient has the right to receive correct information and a proper treatment plan.

• The patient’s information should be kept confidential.

What Are the Limitations of Genetic Counseling?

There are certain limitations in the field of genetic counseling-

• Lack of awareness about genetic counseling.

• Lack of interest in being involved in genetic counseling.

• The cost of genetic counseling and genetic testing can be expensive.

• Genetic counseling is a lengthy process, and the involved individual may not get desired results.

• There are certain diseases and conditions for which genetic testing is permitted.

• The inclusion of minors in genetic testing is a sensitive area.

Conclusion-

Genetic counseling can help many people understand the basics of genes and uncover their genetic disorders. This counseling can provide valuable information and guide them to make the right choices to plan treatment options and also prevent or manage any condition that an individual might suffer from due to genetic predisposition.