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Are you an international student? Are you interested in learning more about Masters In Genetic Counseling? Do you get overwhelmed by the amount of conflicting information you see online? If so, you need not search further because you will find the answer to that question in the article below.

To get more information on Masters In Genetic Counseling. You can also find up-to-date, related articles on Collegelearners.

Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.

Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine. The process integrates:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about inheritance, testing, management, prevention, resources
  • Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk

Detection and early processes

Diagnostic testing occurs when an individual is showing signs or symptoms associated with a specific condition. Genetic testing can be used to arrive at a definitive diagnosis in order to provide better prognosis as well as medical management and/or treatment options. Testing can reveal conditions can be mild or asymptomatic with early treatment, as opposed to debilitating without treatment (such as phenylketonuria). Genetic tests are available for a number of genetic conditions, including but not limited to: Down syndrome, sickle cell disease, Tayโ€“Sachs disease, muscular dystrophy. Establishing a genetic diagnosis can provide information to other at-risk individuals in the family.

Any reproductive risks (e.g. a chance to have a child with the same diagnosis) can also be explored after a diagnosis. Many disorders cannot occur unless both the mother and father pass on their genes, such as cystic fibrosis; this is known as autosomal recessive inheritance. Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome. Yet other genetic disorders are caused by an error or mutation occurring during the cell division process (e.g. aneuploidy) and are not hereditary.

Screening tests are often used prior to diagnostic testing, designed to separate people according to a fixed characteristic or property, with the intention of detecting early evidence of disease. For example, if a screening test during a pregnancy (such as maternal blood screening or ultrasound) reveals a risk of a health issue or genetic condition, patients are encouraged to receive genetic counseling to learn additional information regarding the suspected condition. A discussion of the management, therapy and treatments available for the conditions may take place; the next step may differ depending on the severity of the condition and range from during pregnancy to after delivery. Patients may decline additional screening and testing, elect to proceed to diagnostic testing, or pursue further screening tests to refine the risk during the pregnancy.

Presymptomatic or predictive testing occurs when an individual knows of a specific diagnosis (typically adult onset) in their family and has other affected relatives, but they themselves do not manifest any clinical findings at the time when they seek testing. The decision about whether or not to proceed with presymptomatic testing should entail a thoughtful approach and consideration of various medical, reproductive, social, insurance, and financial factors, with no โ€œrightโ€ or โ€œwrongโ€ answer. Availability of treatment and medical management options for each specific diagnosis, as well as the genetics and inheritance pattern of the particular condition should be reviewed as inherited conditions can have reduced penetrance.

Insurance and legal issues should also be discussed during genetic counseling. There are laws in the United States such as GINA (Genetic Information Non-discrimination Act) and ACA that provide certain protections against discrimination for individuals with genetic diagnoses.

Approach and session overview

Approach

There are different approaches to genetic counseling. The reciprocal-engagement model of genetic counseling practice includes tenets, goals, strategies, and behaviors for addressing patients’ genetic concerns. Some counselors favor a psycho-educational approach while others incorporate more psycho-therapeutic techniques. Genetic counseling is psycho-educational as patients “learn how genetics contributes to their health risks and then process what this means and how it feels.”

Whether the process of genetic counseling is a form of psychotherapy is up for debate. The relationship between the client and counselor is similar as are the goals of the sessions. As a psychotherapist aims to help his client improve his wellbeing, a genetic counselor also helps his client to address a “situational health threat that similarly threatens client wellbeing”. Due to the lack of studies which compare genetic counseling to the practice of psychotherapy, it is hard to say with certainty whether genetic counseling can be “conceptualized as a short-term, applied, specific type of psychotherapy”. However, there few existing studies suggest that genetic counseling falls “significantly short of psychotherapeutic counseling” because genetic counseling sessions primarily consist of the distribution of information without much emphasis placed on explaining any long-term impacts to the client.

Structure

The goals of genetic counseling are to increase understanding of genetic diseases, discuss disease management options and explain the risks and benefits of testing. counseling sessions focus on giving vital, unbiased information and non-directive assistance in the patient’s decision-making process. Seymour Kessler, in 1979, first categorized sessions in five phases: an intake phase, an initial contact phase, the encounter phase, the summary phase, and a follow-up phase. The intake and follow-up phases occur outside of the actual counseling session. The initial contact phase is when the counselor and families meet and build rapport. The encounter phase includes dialogue between the counselor and the client about the nature of screening and diagnostic tests. The summary phase provides all the options and decisions available for the next step. If patients wish to go ahead with testing, an appointment is organized and the genetic counselor acts as the person to communicate the results. Result delivery can happen both in person or via phone. Often counselors will call out results to avoid patients having to come back in as results can take weeks to be processed. If further counseling is needed in a more personal setting, or it is determined that additional family members should be tested, a secondary appointment can be made.

Support

Genetic counselors provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Many engage in research activities related to the field of medical genetics and genetic counseling. When communicating increased risk, counselors anticipate the likely distress and prepare patients for the results. Counselors help clients cope with and adapt to the emotional, psychological, medical, social, and economic consequences of the test results.

Each individual considers their family needs, social setting, cultural background, and religious beliefs when interpreting their risk.[17] Clients must evaluate their reasoning to continue with testing at all. Counselors are present to put all the possibilities in perspective and encourage clients to take time to think about their decision. When a risk is found, counselors frequently reassure parents that they were not responsible for the result. An informed choice without pressure or coercion is made when all relevant information has been given and understood.

Role of Genetic Counseling

Genetic counselors help identify families at possible risk of a genetic condition by gathering and analyzing family history and inheritance patterns and calculating chances of recurrence. They provide information about genetic testing and related procedures. They are trained to present complex and difficult-to-comprehend information about genetic risks, testing, and diagnosis to families and patients. Genetic counselors can help families understand the significance of genetic conditions in relation to cultural, personal, and familial contexts. They also discuss available options and can provide referrals to educational services, advocacy and support groups, other health professionals, and community or state services. Genetic counselors can serve as a central resource of information about genetic conditions for other healthcare professionals, patients, and the general public.

5.2 Process of Genetic Counseling

In general, a genetic counseling session aims to:

  • Increase the familyโ€™s understanding of a genetic condition โ€ข Discuss options regarding disease management and the risks and benefits of further testing and other options
  • Help the individual and family identify the psychosocial tools required to cope with potential outcomes
  • Reduce the familyโ€™s anxiety

It is not unusual for multiple genetic counseling sessions to occur and, at a minimum, to include a pre-testing and post-testing session. During the initial genetic counseling visit, the genetic counselor will determine why the patient/family is seeking genetic counseling, identify what information they wish to obtain from the session, collect and record a family medical history, and assess and record the medical and psychosocial history of the patient.

Among the topics that may be discussed during a pre-testing session are the clinical presentation of the condition(s) the patient may be at risk for, pattern of genetic inheritance of the condition, chance of recurrence, available testing procedures and test limitations, reproductive options, and follow-up procedures, if needed. General questions relating to suggested treatment or therapy are also addressed. Referrals may be made to specialists regarding specific issues that fall outside the scope of genetic counseling practice.

If the patient decides to have genetic testing performed, the genetic counselor often acts as the point person to communicate the results. However, the post-test session involves more than the provision of medical information and often focuses on helping families cope with the emotional, psychological, medical, social, and economic consequences of the test results. In particular, psychological issues such as denial, anxiety, anger, grief, guilt, or blame are addressed, and, when necessary, referrals for in-depth psychosocial counseling are offered. Information about community resources and support groups can be provided to the patient/family.

If the genetic test is positive, testing may be considered for additional relatives of the individual. Genetic counseling referrals for other family members for risk assessment may be discussed. It may be necessary to refer relatives to other genetic counselors due to geographical and other constraints.

At the conclusion of the final genetic counseling session, the patient may receive a written summary of the major topics discussed. The summary is often provided in the form of a letter, which serves as a permanent record of the information discussed and can include additional information that became available after the final counseling session. The patient may choose to share the letter with other family members or healthcare providers.Go to:

5.3 Patient Education

Many patients rely heavily on their primary healthcare providers for information related to their condition. In general, though, patients will require information providers may not have. Before providing patients with any educational materials, providers should be sure to check that the information is current and produced by a credible source.

Books and pamphlets are appreciated by patients, even those who are web-savvy. Patient advocacy groups generally provide the best and most up-to-date information. The organizations listed on the following page are excellent sources of information about genetic diseases that can be helpful to patients.

After counseling for other hereditary conditions, the patient may be presented with the option of having genetic testing. In some circumstances no genetic testing is indicated, other times it may be useful to begin the testing process with an affected family member. The genetic counselor also reviews the advantages and disadvantages of genetic testing with the patient.

Outcomes

The most commonly measured genetic counseling outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict.

This process integrates the following:

Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
Education about the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research.
Counselling to promote informed choices in view of risk assessment, family goals, ethical and religious values.
Support to encourage the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

The expanding role of genetics in almost every clinical condition is associated with the increasing development of new genetic and molecular test, and implementation of these tests is becoming well integrated into medical practice. Therefore, primary care providers, family doctors, pediatricians, and other specialists involved in the care of patients and families affected by genetic conditions will be largely concerned with both genetic tests and genetic counseling. That process may be considered in several stages: collecting genetic information and pedigree drawing; making or validating the diagnosis; estimating occurrence and recurrence risk; communicating clinical information; and supporting the family to reach a decision and take appropriate action. However, the term “genetic counseling” is often used to describe the entire approach to patients and families with genetic conditions, sometimes being restricted to the communication and psychotherapeutic process. Consequently, the separation of clinical from supportive process had an important role in most definitions of genetic counseling. Should all those aspects be considered parts of a single process? This is the main question that will be discussed hereafter, under the hypothesis that the synthesis of all those steps should be required to approach any genetic conditions. In that view, rethinking of genetic counseling from a medical point of view should be seen as an important subject for discussion, and might contribute to bring together clinical and nonmedical aspects.

Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss genetic risks. The counseling may be for yourself or a family member. Or you may get it when you are planning or expecting a baby. You may follow up with genetic testing.

There are many reasons to seek genetic counseling. You may consider it if you

  • Have a personal or family history of a genetic condition or birth defect
  • Are pregnant or planning to be pregnant after age 35
  • Already have a child with a genetic disorder or birth defect
  • Have had two or more pregnancy losses or a baby who died
  • Have had ultrasound or screening tests that suggest a possible problem

KEY POINTS

  • Genetic counseling helps you understand how genes, birth defects and medical conditions run in families and how they affect your familyโ€™s health.
  • You may want genetic counseling if health conditions run in your family or if prenatal tests show your baby may be at risk for health conditions.
  • A genetic counselor can help you understand test results to help you make decisions about your pregnancy and your babyโ€™s care.
  • You can get genetic counseling before or during pregnancy. Your health care provider can help you find a genetic counselor in your area.

What is genetic counseling?

Genetic counseling helps you understand how genes, birth defects and other medical conditions run in families, and how they can affect your health and your babyโ€™s health. 

Genes are parts of your bodyโ€™s cells that store instructions for how your body grows and works. Genes are passed from parents to children. A birth defect is a health condition thatโ€™s present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, in how the body develops or in how the body works.

You get genetic counseling from a genetic counselor. Your counselor can be:

  • A certified genetic counselor (also called a CGC). This is someone who has special training to be a genetic counselor.
  • A doctor or nurse with special training in genetic counseling

You can get genetic counseling any time, before or during pregnancy. Your health care provider can help you find a genetic counselor in your area. Or contact the National Society of Genetic Counselors. 

Who should get genetic counseling?

You may want genetic counseling if: 

  • You have or think you have a genetic condition, or you have a child with a genetic condition, like cystic fibrosis or sickle cell disease, or a birth defect, like a heart defect or cleft lip or palate. These conditions may run in your family or ethnic group. An ethnic group is a group of people, often from the same country, who share language or culture. Some genetic conditions run in ethnic groups. For example, people who are Ashkenazi Jews are more likely than others to have Tay-Sachs disease and other genetic conditions. 
  • Youโ€™re 35 or older. If youโ€™re older than 35 when you get pregnant, youโ€™re more likely than younger women to have a baby with a birth defect.
  • You and your partner are first cousins or other blood relatives. Blood relatives are related by birth (like children, brothers, sisters, cousins), not by marriage (like sister- or brother-in-law). 
  • Your job, lifestyle or medical history may increase your babyโ€™s chances of having a genetic condition or birth defect. For example, working with certain chemicals, like weed killer or radiation, can cause problems for a baby during pregnancy. Using street drugs or abusing prescription drugs also can affect your baby. And some medicines you take to treat a health condition or infection can be harmful to your baby during pregnancy.  
  • An ultrasound or other prenatal test shows that your baby may be at increased risk for a genetic condition or birth defect. An ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. Prenatal tests are medical tests you get during pregnancy. They help your provider find out how you and your baby are doing.  
  • Your babyโ€™s newborn screening results show that your baby may be at risk for genetic condition. Babies get newborn screening before they leave the hospital after birth to check for certain rare but serious health conditions.  
  • Youโ€™ve had two or more miscarriages or babies who died after birth. A miscarriage is the death of a baby in the womb before 20 weeks of pregnancy. 

What happens at genetic counseling?

When you go to see a genetic counselor, she:

  • Takes your family health history. Your counselor uses this information to see how your familyโ€™s health may affect you and your children. 
  • May set up appointments for you to have tests to check for genetic conditions. You can get some of these tests before pregnancy to help you understand your chances of passing a genetic condition to your baby.  
  • Helps you understand test results and your babyโ€™s risk for genetic conditions. Your counselor works with you and your health care provider to help you make decisions about your babyโ€™s health.  
  • Refers you to medical specialists, education resources and support groups that focus on your babyโ€™s condition. A support group is a group of people who have the same kind of concerns who meet together to try to help each other.

How can I prepare for a genetic counseling visit?

Although steps to prepare for specific types of visits are provided later in this booklet, here are a few common areas to think about before your visit. Come to the visit with a list of questions you would like to ask. This will help the counselor focus on your concerns. Genetic counseling visits usually involve collecting family history information. It can be useful to ask your relatives about what types of medical conditions occur in your family before your visit. If you have medical records relating to your concerns, you may want to bring them or ask your doctor to send them to the genetic counselor before your visit.

What can you expect from your visit?

At the beginning of the session, you and the genetic counselor should outline what to talk about in the session. Common topics include:

  • Talking about your family health history and ethnic heritage.
  • Helping you understand the causes of genetic conditions.
  • Helping you understand testing options, diagnosis, or, in some cases, the reason why no diagnosis has been made.
  • Guiding you through decision-making about genetic testing, family planning, or medical planning.
  • Helping you deal with emotions associated with having or not having a known genetic condition, having a relative with a genetic condition, or being at risk for a genetic condition.
  • Finding supportive resources to help you manage a genetic condition.
  • Understanding the chance of passing a genetic condition on to your children.

Your input is very important to the genetic counseling session; the details you provide will allow the genetic counselor to understand your health concerns fully.

A genetic counseling session is a conversation. Your input is very important to the session.

Questions you might ask your genetic counselor

  • Does the disease in question run in families?
  • If my family member has a disease, might I get it?
  • If I have a disease, are my family members at risk of getting it?
  • Is any kind of genetic testing available? If so, what are the benefits and limitations of the testing? How will I pay for it?
  • What kind of information can genetic testing give me?
  • What does the genetic testing process involve?
  • If I decide to have genetic testing for myself or my child, when can I expect to hear about the results? Will the results be given to me over the phone or in person?
  • How can knowing more about a genetic risk help me?
  • Could I be exposing myself or my family to discrimination based on genetic information?

A certified genetic counselor can help you understand your risk for hereditary cancer. A hereditary cancer is any cancer caused by an inherited change to a gene. “Inherited” means that this genetic change, also called a germline mutation, can be passed from parent to child within a family.

What does a genetic counselor do?

A genetic counselor can evaluate your individual risk of getting certain types of cancer based on your family’s medical history. They also explain which genetic tests can give you more information about your risk level.

It can be complex to decide whether you should have genetic testing to find out more about your hereditary cancer risk. Your counselor will explain the testing process, what the tests can and cannot do, and how well they work. Together, you will also discuss how knowing the test results may affect your emotions, mental health, and family. This information can help you decide if having genetic testing is right for you.

Genetic counselors can also advise you on:

  • Cancer screening and early detection options
  • Cancer prevention and risk reduction
  • Diagnostic and treatment options
  • The privacy of your genetic information
  • How to talk with family members about inherited cancer risk

How is a genetic counselor trained and certified?

A genetic counselor is a specially trained health care professional. They specialize in medical genetics and counseling. In the United States, most genetic counselors have a master’s degree in genetic counseling. Some have degrees in related fields, such as nursing or social work.

Genetic counselors are certified through the American Board of Genetic Counseling. Like other health care professionals, they must take part in continuing education to stay certified. Many genetic counselors also have a state license.

Getting ready for an appointment with a genetic counselor

Knowing your family’s medical history helps you get the most out of your genetic counseling appointment. Your counselor may ask for:

Medical records. This includes doctors’ notes and pathology reports. Pathology reports are your laboratory test results from any biopsies, surgeries, or cancer screening tests.

A list of family members. Provide each person’s current age or their age at the time of death and cause of death. This list should include your parents, full siblings, and children. It should also include your grandparents, aunts, uncles, cousins, nieces, and nephews on both sides of your family.

Information on types of cancer that have been diagnosed in your family. If you can, it’s best to find out each family member’s age at the time of their diagnosis and where in the body the cancer started. Pathology reports are also useful.

This information is very helpful, but you do not need to have it. A genetic counselor can guide you even if you do not know much about your family history.

You may want to take a family member or friend to your appointment. The genetic counselor will discuss a lot of information. Another person can help you take notes and think of questions. If you choose to bring a family member, they may be able to answer questions about your family history.

What happens during an appointment with a genetic counselor?

Your genetic counselor will ask about your personal medical history and the results of any cancer screening tests. Then they will look at your family’s cancer history.

The counselor will map out your family tree and include at least 3 generations. The family tree will include:

  • Which family members have been diagnosed with cancer
  • What type of cancer was diagnosed
  • Their age at the time of diagnosis

Depending on your family history, your counselor will discuss your chance of an inherited cancer risk. They may use computerized risk assessment tools to help figure out your risk.

Your genetic counselor will also discuss these genetic testing topics:

  • The pros and cons of genetic testing for you and/or your family members
  • A genetic testing plan that best meets your needs
  • Current laws about the privacy of genetic information

What happens after an appointment with a genetic counselor?

Your genetic counselor will give you written information after your appointment so you can review it later. This information will include what they learned from your family history and information on specific genetic testing options.

It is possible that you or family members qualify for research or screening studies. Researchers are always trying to learn more about inherited cancer risk and hereditary cancer syndromes. Your genetic counselor can provide information about these studies and help you sign up if you are interested.

If you choose to have genetic testing, your genetic counselor can:

Help you handle pre-testing details. For instance, your counselor can find out if insurance covers all or part of the financial costs of the test.

Review test results with you. After your test results are complete, your counselor can help you understand what those results mean. They can give you a copy of the test report and a summary that explains the results.

Discuss what to do after testing. For instance, your counselor may suggest certain cancer screening tests or additional genetic tests.

In the long term, your genetic counselor will continue to be a resource for you and your family. This means you can call your counselor if you have any questions about your inherited cancer risk. It is especially important to tell them if your family’s cancer history changes.

The Benefits of Genetic Counseling

If you are concerned about your current or future pregnancy, the skilled genetic counselors at Pomona Valley Health Centers can help. They work closely with you and your physicians and provide the personalized care you deserve. Our genetic counselors help couples understand genetic or medical conditions and their causes, as well as their probability of conceiving a child with a medical concern.

What are the benefits of genetic counseling?

Genetic counseling benefits couples in many ways, including:

  • Increased understanding
    Genetic screening tests can help calculate the likelihood that the fetus might be born with Down syndrome, cystic fibrosis, Tay-Sachs disease or sickle cell anemia. Genetic counselors are there to effectively communicate this information and help couples understand any potential benefits of preventative measures to individuals and their family members.
  • Better peace of mind
    For parents-to-be who are aware of a family history of a particular disease or condition, it can be cathartic to learn that they do not carry the gene.
  • Early intervention
    In some cases, genetic testing can uncover a hidden gene mutation that puts you at risk of developing a deadly disease. Our counselors help you understand the cause of this condition and what you can do to prevent it from developing and/or spreading.
  • Appropriate testing
    A genetic counselor can help couples determine what tests are most appropriate for your pregnancy. It can be especially important if any standard prenatal screening test yields an abnormal result.
  • Decision-making
    Our counselors help you understand testing options, diagnosis and the underlying causes of the genetic disorders, as well as guide you through any decision-making regarding genetic testing or family planning.

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