The Ultimate Guide to Genetic Counselors
Updated on February 22nd, 2019
Who are Genetic Counselors?
Genetic counselors have specialized education in genetics and counseling to provide personalized help to patients who may need to make decisions about their genetic health 1.
Genetic counselors interpret genetic test results, and to guide and support patients seeking more information about such things as:
- How inherited diseases and conditions might affect them or their families.
- How family and medical histories may impact the chance of disease occurrence or recurrence.
- Which genetic tests may or may not be right for them.
- What genetic tests may or may not tell.
- How to make the most informed choices about healthcare conditions.
Most genetic counselors work in a clinic or hospital, and often work with obstetricians, oncologists and other doctors.
They may provide general care, or specialize in one or more areas, including:
- Prenatal and Preconception – for women who are pregnant or thinking about becoming pregnant
- Pediatric – for children and their family members
- Cancer – for patients with cancer and their family members
- Cardiovascular – for patients with diseases of the heart or circulatory system and their family members
- Neurology – for patients with diseases of the brain and nervous system and their family members.
Some genetic counselors focus on research that helps advance care for people with genetic conditions.
Certification in genetic counseling is offered by the American Board of Genetic Counseling (ABGC) 2 through an examination administered twice per year. Certification is not required everywhere but it demonstrates that an individual has met the standards necessary to provide competent genetic counseling.
What Does Genetic Counseling Involve?
The type of genetic counseling you receive will depend in large part on the type of genetic testing you go through.
There are literally thousands of genetic tests that can be administered, as well as tests that don’t even exist yet because there are so many mutations.
As you might guess, with so many variations and possibilities, interpreting the results through genetic counseling both before and after a test will help you reach important conclusions based on what you can learn and what you won’t learn.
Types of Genetic Testing
Although there are thousands of possible genetic tests, they fall into several broad categories.
Diagnostic testing is used to determine if you have a specific genetic condition. If you already show signs of a particular condition, then the genetic testing may be used to confirm that diagnosis.
Carrier testing is used to screen for conditions when it is known that there is a family history of a genetic disorder. Because you inherit some genes from your biological mother and some from your biological father, but not all genes, this type of testing can determine exactly what you inherited and if you are a carrier or not.
If you are a carrier, it means you may pass it on to your children. This type of testing is often recommended for people planning a family or for certain ethnic groups that are at an increased risk for specific genetic conditions.
Predictive testing can detect some genetic variants that may not be apparent right away. For example, testing for the BRCA mutation can indicate an increased risk of breast and ovarian cancer, or variants of the APOE gene can indicate increased risk for Alzheimer’s disease.
Preimplantation testing may be an option for families who want to start a family but are concerned because of a maternal age or a family history of a genetic disorder. Embryos are created using assisted reproduction and then tested for specific gene disorders.
Only embryos that test negative are implanted into the uterus as the first step in a pregnancy.
Prenatal testing is done if a pregnancy is at an increased risk for having a genetic or chromosome disorder. For example, prenatal testing may be recommended if the woman is 35 or older if screening tests are abnormal, or if there is a family history of a genetic disorder.
While prenatal testing can identify certain disorders, it can’t identify all inherited disorders or birth defects.
Newborn screening test infants right after they are born to see if they could have one of about 30 genetic disorders. If detected, some of these disorders can be treated so they don’t cause problems.
What happens when you meet with a genetic counselor?
As you can gather, testing can be a complicated process and interpreting the results correctly is critical to making sure your questions are answered truthfully and completely.
The insights provided by a genetic counselor are just as important as the test itself.
Depending on the nature and the results of your tests and your situation, you will meet with a genetic counselor face-to-face one or two times. There may be additional follow-ups based on your needs. You can meet with a genetic counselor on your own, with a spouse or with as many family members as you want.
Initially, a genetic counselor will take a full family health history and you will be asked about significant medical diagnoses for yourself and family members. This can include things such as cancer, autism, learning disabilities, birth defects or other genetic conditions.
If you haven’t taken a test yet, then options will be presented to you detailing the pros and cons of testing. This will be in the context of the reason you were referred to a genetic counselor in the first place, such as due to pregnancy, family history or other genetic health concerns.
If you have a taken a test and have results in hand, a genetic counselor will interpret those results and talk about any decisions that need to be made 3. This can include preventative measures, lifestyle choices and how to handle any emotional issues that come up as a response to test results.
You should receive a written summary that details all of the things discussed in the counseling session. This may include the recommendation for additional tests based on your personal situation and your family history.
A genetic counselor will be available after your meeting to answer additional questions, assist you with ongoing support, work with labs if additional tests are required, contact insurance companies to advocate for coverage and communicate with your doctor about the tests results and how they should be interpreted.
You Have Your DNA Test Results, Now What?
Just like with any other medical test, when you get DNA test results, you may be able to understand what some of those results mean, but you could misinterpret the results, or easily draw the wrong conclusions 4.
Whether your test results come back with a slew of positive results, negative results or inconclusive results, you are cheating yourself and your family if you don’t have those results properly interpreted.
Depending on the type of tests you have done, you could also be experiencing a high level of anxiety and stress not knowing what the results are, or how to interpret the results you already have in hand.
Keep in mind that several types of genetic testing will only identify if a mutated gene is present thus putting you at a higher risk for developing a certain condition such as cancer or heart disease, but a genetic counselor can help ease your mind by putting that risk in the proper perspective.
Properly interpreting results also means that you will also be able to make the best and most informed choices about medical and lifestyle decisions as well. You can also share the results with family members, and they will be able to assess their own levels of risk and courses of treatment or lifestyle modification.
A genetic counselor can also put things in perspective in terms of a positive result that means a mutation is present and how harmful it may be to you. In some cases, just because a genetic mutation is found, it does not automatically mean that it is harmful to you.
You can also benefit from know about a result that is inconclusive. This could mean that a genetic mutation was found but that science does not yet know enough about the mutation to be able to guide you to make appropriate choices at this point.
However, knowing that a mutation might exist also means that you can be kept abreast of developments related to that mutation. The science is rapidly evolving and what may be known a year or two from now could be leaps and bounds beyond what is currently known.
When to Consider Genetic Counseling
Realistically, just about anyone can benefit from genetic testing and genetic counseling.
But there are some specific instances when seeing a genetic counselor can be a smart choice. Consider consulting a genetic counselor when:
- You are thinking about becoming pregnant and you’re concerned about your baby’s health. You could be concerned that the baby might inherit a condition that runs in your family and you want to know the risk of the baby having that condition.
- You’re considering common genetic tests for your baby, such as for Downs Syndrome.
- You’re already pregnant, you’ve had a genetic test and the results indicated an abnormality.
- Couples who would like testing or more information about genetic conditions that occur more frequently in their ethnic group.
- A close relative who has been diagnosed with a condition that may be the result of an inherited gene, such as for cancer or Alzheimer’s disease.
- Your family has a history of certain diseases or genetic conditions and you want to know if you are a carrier of that gene. If so, you could be more likely to have an inherited genetic condition, but it does not mean for sure that you will develop the condition.
- You have testing results in hand, and you want to discuss appropriate ways of sharing that information with your family members.
- Individuals who are concerned about their personal risk for disease based on lifestyle or occupational exposures.
- When you want to know about certain types of genetic conditions, such as cancer, that are not always inherited from a family member and can be caused by genetic mutations that occur randomly or due to other factors (such as exposure to a toxin or drug) in patients who don’t have any inherited risk.
- When you want to know about a genetic mutation combined with other factors, such as other genes, and environmental factors (i.e., where you live, lifestyle, diet and exercise, etc.), that act together to cause disease. Some examples of diseases with both genetic and environmental factors are certain types of cardiovascular disease, cancer and most cases of Alzheimer’s disease.
Pros and Cons of Genetic Counseling
You may be thinking that the idea of taking a genetic DNA test and having it interpreted by a genetic counselor has no downsides to it.
You submit a blood or saliva sample that provides insights to your body’s genetic code and defects, allowing you to better understand what problems you might encounter in the future.
But before you undergo testing and counseling, it’s important to fully understand the benefits and the drawbacks that you might encounter. Genetic testing and counseling are not strictly a black and white proposition. It is more nuanced that you might know or want to believe.
That’s why getting a test shouldn’t be taken lightly. Aside from the medical findings, there is a psychological component that many people underestimate.
The Pros of Genetic Counseling
There is empowerment in knowledge. Perhaps the best thing about genetic counseling is that it can arm you with critical information that you can use to take preventative measures for your future health. Genetic counseling can act as a warning system to see if you are predisposed to certain kinds of diseases like cancer.
By getting testing done early, you will know what your risks are and you can be more vigilant for diseases you test positive for, also allowing you to take preventative lifestyle steps. With some luck, you can stop or significantly reduce a problem before it becomes life threatening.
Certain genes are associated with more severe diseases. And some genes respond to certain medications and treatments better. Knowing what genes are at risk means that more testing can be done to pinpoint risks and zero in on the most effective treatment protocols.
Putting your mind at ease. If you are concerned that you may be predisposed for cancer or heart disease, for example, testing, counseling and getting a negative result can save you years and years of worry for something that is less likely to happen to you.
Protecting your family members. When you are armed with your own DNA testing and counseling results, you can use that information to also protect your family better. Knowing what you may pass on to your children, especially if you’re only considering having a family, can help you make decisions regarding pregnancy and in the years that follow.
When you know what you may or may not pass on to your family members, you can start a preventative course of action while they are still infants. A big part of testing is actually trying to determine who else in a family is at risk.
Knowledge about DNA testing and counseling is rapidly evolving. Tests are cheaper. The science and the databases are much more comprehensive, and the types of tests that are available today didn’t even exist 10 or 20 years ago.
You are protected from many types of discrimination. Genetic test results do appear on your medical record, but there are several anti-discrimination laws on the books, including the Genetic Information Nondiscrimination Act of 2008. This prohibits employers using genetic data to hire, fire or promote employees.
It also prevents health insurance companies from using it as a pre-existing condition. However, if you are seeking life insurance, disability or long-term care insurance, your coverage could be impacted.
Part of an integrated approach. Genetic testing and counseling are becoming more prevalent and complex than ever before. As such, genetic counselors are playing a bigger role than ever before as part of an integrated approach when it comes to providing services for patients.
They are communicating with other medical providers about how to provide comprehensive services to patients, including playing a key role in the emotional support patients need as they learn about complicated genetic information that may then be used to make difficult healthcare decisions.
The Cons of Genetic Counseling
You may not like what you hear. The downside of knowledge is that all of the information you’re given will probably not be good. You could find out through counseling that there is an inherited mutation that puts you and your children at risk.
Further complicating matters is the fact that because each parent only passes along 50% of their DNA to a child, it’s possible that two siblings could have much different genetic mutations. The science is becoming more and more accurate, but unfortunately, the emotional component is as messy as ever.
A possible guilt trip. The other thing you have to deal with as a parent is that through no fault of your own, you can pass down mutations that could negatively impact your offspring in the future. You can try to intellectualize it any way you want, but the possibility of guilt that you can’t rid yourself of is always a possibility.
Nothing is certain with testing. Although you can find out what mutations you have and what you may be more predisposed to develop, the fact remains that you may never develop any of the conditions that are identified. So even though you may be identified for having a greater risk of heart disease or cancer, it doesn’t mean that you’ll necessarily suffer from those ailments in your lifetime 5.
What you could suffer from is the anxiety of knowing about them which can trigger its own whirlwinds of anxiety, fears and depression.
Prevention doesn’t always work. Even after you’ve identified mutations, and you take steps to mitigate those risks, your actions may still not prevent or completely negate those risks.
Testing can be costly. The price of genetic testing ranges from a few hundred dollars to several thousand dollars. Prices have come down, but they can still be expensive depending on the tests you need and what your insurance will cover.
How to Find a Genetic Counselor
You have several options when it comes to finding a genetic counselor.
In some cases, your primary care physician may refer you to a genetic counselor. If you go to a genetic testing service, they may also refer you to a genetic counselor as well, or they may employ counselors as part of their staff.
In other cases, your insurance company may require you to go to a genetic counselor before you undergo genetic testing. They will probably have referrals in place that you will need to use as part of your in-network coverage.
Choosing a certified genetic counselor
If you have a choice, your best bet is to choose a Certified Genetic Counselor (CGC). To be certified, a genetic counselor must demonstrate knowledge, skills and abilities by successfully completing the certification examination administered by the American Board of Genetic Counseling (ABGC) 6.
CGCs are the most qualified professionals for a number of reasons:
- Independent studies have shown that genetic testing ordered by CGCs is more cost-effective than testing ordered by non-CGCs
- A growing number of independent, third-party payers (insurance companies) require genetic counseling by a CGC, prior to genetic testing
- Genetic counseling and testing are expanding across all medical specialties, increasing the need for CGCs
If you are not referred to a CGC, you can find one near you by using the ABGC locator tool that you can find here.
The National Society of Genetic Counselors also maintains a search tool to help interested parties locate genetic counselors as well. You can find the locator tool here.
Different Kinds of Genetic Counselors
To get the best possible information, you should seek out a genetic counselor that specializes in the type of testing you have had or are considering.
In addition to meeting with patients, genetic counselors also serve key roles in education, health information technology, industry, public health, research, and telegenetics.
As the science behind genetics has matured, the field of genetic counseling has become much more targeted. According the National Society of Genetic Counselors, here are several of the specialized roles that counselors offer:
The Assisted Reproductive Technology (ART)/Infertility genetics specialty focuses on genetic causes of male or female factor infertility and genetic technologies in assisted reproduction, such as preimplantation genetic diagnosis. Genetic counselors that specialize in this area of genetics also provide family history risk assessment for persons utilizing ART as well as interpretation of positive genetic test results 7.
Patients who could benefit from ART/Infertility genetic counseling services include:
- Males with severe oligospermia or non-obstructive azoospermia
- Males with congenital absence of the vas deferens
- Females with primary ovarian insufficiency (formerly referred to as premature ovarian failure) or early menopause
- Anyone interested in preimplantation genetic testing for aneuploidy and/or single gene disorders
- Any patient presenting for preconception counseling who is a carrier of a genetic disease or has a personal or family history of genetic disease, birth defect, mental retardation, autism
- Any patient considering genetic testing
- Anyone interested in assessing their family history for possible genetic risks or test recommendations prior to pregnancy
Genetic risk assessment services typically include:
- 3 generation pedigree for the patient or gamete donor
- Research about specific conditions/ testing
- Pedigree analysis/ risk assessment
- Genetic screening recommendations indicated by ethnicity/ancestry or family history
- Genetic test result interpretation
- Communication of test results
- Recommendation for further studies as indicated by test results
- Summary letter for clinic, patient or donor reference
- Discussion with intended parent with questions about their donor risk assessment, if desired
- Discussion with intended parent with questions about their donor risk assessment if desired
Having a genetic counselor thoroughly review and interpret the family medical history helps ensure that couples using ART have appropriate genetic testing. The genetic counselor can also provide health information about a gamete donor and interpret potential risks to offspring through the use of family history risk assessment.
A genetic counseling session provides patients with an explanation of how certain genetic changes may be associated with their infertility, education about using assisted reproductive technologies to lessen genetic risks to offspring, and psychosocial support for patients coping with reproductive implications of genetic test results.
Cancer genetics is the study of hereditary and familial cancer. The primary goal of cancer genetic counseling is to identify individuals and families at increased risk of cancer for the purpose of promoting awareness, early detection, and cancer prevention.
A cancer genetic counselor also facilitates the genetic testing process by identifying the most informative family member to test, assessing the most appropriate genetic tests for patients and their families, interpreting the results, and helping patients and their physicians apply the results to medical management decisions.
There are many known genes that can cause inherited forms of cancer in certain families including hereditary breast and ovarian cancer, hereditary colon cancer and others.
In some families, a pattern of cancer is obvious, while in others it may be difficult to detect a pattern due to small family size, incomplete family history, or inability to document diagnoses.
A cancer genetic counselor can help identify who is at risk for an inherited cancer syndrome and discuss screening and prevention options for those individuals 8.
Genetic counselors can also facilitate referrals to long-term resources such as community agencies, support groups, and other families with the same condition.
Patients who should be referred to a cancer genetic counselor include:
- Cancer diagnosed at an unusually young age (e.g. breast or colon cancer before age 50)
- Multiple close family members with the same type of cancer or related cancers (e.g. breast and ovarian cancer, colon and uterine cancer)
- Two or more primary cancer diagnoses in the same individual (e.g. breast cancer in both breasts, breast and ovarian cancer)
- Rare cancers or unusual tumors (e.g. medullary thyroid cancer, retinoblastoma, hepatoblastoma, male breast cancer, adrenal cortical carcinoma, pheochromocytoma and paraganglioma)
- Presence of other features associated with an inherited cancer syndrome (e.g. multiple colon polyps)
Other patients who may also benefit from a referral to a cancer genetic counselor include:
- Members of a family with a known hereditary cancer syndrome
- Individuals with extreme cancer anxiety, even in the absence of heightened risk
- Individuals considering genetic testing for cancer risk
- Individuals with questions about cancer risk in family members
- Individuals with heightened risk based on family history or known gene mutation who have questions about cancer screening, prevention or treatment
- Individuals who have had genetic testing for cancer risk and would like more detailed discussion of their test results
During an appointment, the cancer genetic counselor will typically:
- Collect a detailed cancer-focused personal and family medical history
- Assess the patient’s risk of developing cancer based on the collected information
- Determine whether or not the history is suggestive of an inherited cancer syndrome
- Provide patient education and answer questions about cancer risks, the option of genetic testing, and the risks, benefits, and limitations of genetic testing
- Review medical management options with or without genetic testing
- Provide psychosocial support to patients and families, and facilitate communication between patients and their families regarding risk information and recommendations
- After the visit, the cancer genetic counselor will communicate back to primary care and referring physicians so that risk assessment information can be incorporated into ongoing management
Cardiovascular genetics focuses on hereditary cardiovascular diseases. These conditions include inherited forms of cardiomyopathies, arrhythmias, aortopathies, cardiac amyloidosis, as well as familial coronary artery disease, muscular dystrophies associated with heart disease, and congenital heart disease.
Patients with suspected or known hereditary cardiovascular disease or with a family history of hereditary cardiovascular disease should consider seeing a cardiovascular genetic counselor. This includes people with:
— Familial cardiomyopathies:
- Hypertrophic cardiomyopathy (HCM)
- Left ventricular non-compaction cardiomyopathy
- Idiopathic or familial dilated cardiomyopathy (DCM)
- Restrictive cardiomyopathy (RCM)
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C),
–Inherited arrhythmias and channelopathies:
- Long QT syndrome
- Short QT syndrome
- Brugada syndrome
–Catecholaminergic polymorphic ventricular tachycardia:
- Hereditary conditions affecting the aorta and other blood vessels
- Marfan syndrome
- Loeys-Dietz syndrome
- Ehlers-Danlos syndrome
- Familial aortic aneurysms
–Family history of sudden cardiac death before the age of 50
–Familial coronary artery disease
–Congenital heart disease
A cardiovascular genetic counselor takes a complete family history, identifies who in the family is at risk for an inherited cardiovascular disease and discusses screening, prevention, and medical management options for those individuals 9.
They also facilitate the genetic testing process by identifying the most informative family member to test, assessing the most useful genetic test for a patient and their family, interpreting the results, and helping the family and their physicians apply the results to the family’s care.
Genetic counselors help families with hereditary heart conditions deal with many of the personal aspects of having an inherited condition in the family, such as decisions about reproductive options and family planning as well as adjusting emotionally to having or being at risk for a hereditary heart condition.
They can also facilitate referrals to long-term resources such as community agencies, advocacy groups, and other families with the same condition.
Cystic Fibrosis (CF) Genetics
Cystic fibrosis genetics encompasses a wide range of clinical presentations associated with the CFTR gene, including:
- Classic cystic fibrosis (CF)
- CFTR-related metabolic syndrome (CRMS)
- Other CFTR-related disorders (i.e. hereditary pancreatitis and some forms of male infertility)
Referral to a CF genetic counselor is appropriate for a wide range of indications. Referral for preconception or prenatal genetic counseling regarding CF carrier testing is indicated for couples who are at increased risk based on family history or ethnic background.
Genetic counseling in these cases may also include discussion of prenatal testing options for CF. Families of infants with a positive newborn screen for CF are recommended to meet with a genetic counselor as part of the evaluation process.
In addition, genetic counseling can be beneficial for any patient with a known or suspected diagnosis of CF, CRMS, or another CFTR-related spectrum disorder, as well as for family members of these individuals.
A CF genetic counselor provides the benefit of expertise in the complexities of CFTR-related genetics and is able to incorporate factors such as mutation class and specific genotype/phenotype correlations into their consultations with patients.
Genetic counselors interpret this information in the context of the patient’s medical and family history information as well as results of various CF-related screening and diagnostic tests to provide patients with accurate risk assessment.
Genetic counselors can facilitate the genetic testing process for patients and their family members. Genetic counselors also provide psychosocial counseling to address individual issues and concerns that arise as part of this process.
In addition to providing the services described above, genetic counselors are able to keep up to date on new mutation-specific treatments and trials that are available for CF patients
All of the US states (and many other countries) have implemented newborn screening for CF, and most states include a DNA testing component as part of their newborn screening process. In addition, a positive newborn screen for CF often comes as a surprise to parents, who may have little to no prior familiarity with CF.
A CF genetic counselor is able to address the emotional and psychosocial issues that arise through this process.
The website for the Cystic Fibrosis Foundation includes links to CF care teams around the country, many of which include a genetic counselor as part of their practice or have relationships with CF genetic counselors.
Fetal Intervention and Therapy Genetics
Fetal Intervention and Therapy (FIT) is a specialized area of prenatal genetics that focuses on pregnancies diagnosed with fetal anomalies. Fetal therapy refers to the diagnosis, and sometimes treatment, of fetal anomalies before birth.
Genetic counselors are part of a multidisciplinary team in centers that provide comprehensive diagnostic services. Fetal intervention centers typically include many different and highly specialized care providers, such as fetal surgeons and maternal fetal medicine specialists.
Some centers offer fetal interventions, which can range from less invasive procedures such as amnioreductions to more invasive procedures like open fetal surgery.
Patients who should see a FIT genetic counselor include:
- Patients with pregnancies diagnosed with fetal anomalies, including multiple congenital anomalies
- Conditions for which fetal intervention may be available, such as myelomeningocele and congenital pulmonary airway malformation (CPAM)
- Conditions for which specialized care will be required at delivery, including ex utero intrapartum treatment (EXIT) or extra corporeal membrane oxygenation (ECMO)
- Conditions that will require care by pediatric specialists after delivery
A Fetal Intervention and Therapy genetic counselor provides a thorough assessment of the family and personal medical history. Factors related to the fetal condition(s) for which the patient is referred, as well as other factors that could affect future pregnancies or personal health are reviewed.
There is also a discussion of recurrence risks for future pregnancies and risks to other family members, as well as available screening options for the condition.
A FIT genetic counselor facilitates the genetic testing process by identifying the most useful genetic test for the patient and their family, coordinating the testing process, as needed, and communicating results to the patient and their healthcare providers.
FIT counselors can also coordinate post-natal care, and help communicate recommendations to families and healthcare providers, acting as liaisons to pediatric providers and helping families bridge the gap between pre- and post-natal care.
Assistance is also provided for patients and their families to deal with the psychosocial aspects of a fetal diagnosis. pregnancy options, providing emotional support and referrals to other resources, like counselors, support groups or even other families are offered as well.
Hematology genetics studies genetic and environmental factors that influence non-malignant hematologic conditions. Some of these conditions include bleeding disorders, thrombophilias and hemoglobinopathies.
These disorders have various etiologies, disease causing mutations and inheritance patterns. Referral to a hematology genetic counselor should also be considered when a patient has a known or suspected genetic condition involving hematologic disease such as Fanconi anemia, Hermansky-Pudlak syndrome or thrombocytopenia absent radius (TAR) syndrome.
Individuals who have a diagnosis or family history of a benign hematologic condition should see a genetic counselor. Patients will benefit from genetic services throughout the many stages of their life (i.e., preconception, prenatal, pediatric, and adult).
A genetic counselor who specializes in hematology can educate patients about his/her diagnosis, including information about how a diagnosis is made, the clinical characteristics, inheritance pattern and genetic components of the disease.
Genetic counseling appointments are tailored to each patient’s reason for referral and questions. A patient’s genetic diagnosis, the inheritance pattern of the disease and risks to other family members will be discussed in detail. Psychosocial issues and reproductive options will also be discussed, particularly if a patient is interested.
Metabolic genetics focuses on the diagnosis, treatment, and long term follow-up of patients with inborn errors of metabolism. These conditions include: disorders of amino acid and organic acid metabolism, fatty acid oxidation disorders, glycogen storage disorders, peroxisomal disorders, urea cycle disorders, disorders of carbohydrate metabolism and transport, disorders of creatine metabolism and transport, mitochondrial disorders and lysosomal storage disorders.
There are hundreds of different inborn errors of metabolism. Although individually rare, inborn errors of metabolism collectively account for approximately 15% of single gene disorders.
Patients who should consider seeing a metabolic genetic counselor include:
- Infants with suspected metabolic disease due to an abnormal newborn screen
- Infants and children with failure to thrive, growth and developmental delays, autism, or intolerance to certain foods (protein, fructose, etc.)
- Infants, children, or adults with regression of motor, cognitive or language skills
- Children and adults with a known or suspected inborn error of metabolism
- Couples with a family history of inborn errors of metabolism who wish to know their risk of having an affected child
- Couples who have children that died of sudden infant death syndrome (SIDS) or sudden unexplained death in childhood (SUDC)
A metabolic genetic counselor works with geneticists, registered dieticians, nurses and other allied health professionals to provide quality care for a patient with an inborn error of metabolism.
A metabolic genetic counselor obtains a complete family, medical and prenatal/birth history, identifies who in the family is at risk for an inherited inborn error of metabolism and discusses screening and prevention options for those individuals. The counselor helps explain the testing process, results, and details about the specific diagnosed disease, including its inheritance, treatment, and risk of recurrence.
Metabolic genetic counselors will also facilitate referrals to outside resources, such as community agencies and family support groups, and in some cases, they will assist in case management and long- term coordination of care for patients with complex metabolic conditions.
Neurogenetics is an area of specialization within medical genetics and neurology that focuses on hereditary neurologic conditions. These conditions include inherited forms of childhood and adult-onset muscular dystrophies, myopathies, neuromuscular, and movement disorders.
Patients with suspected or known neurogenetic conditions or with a family history of hereditary neurogenetics condition should consider seeing a neurogenetic counselor. Conditions include but are not limited to:
- Muscular dystrophies/myopathies: dystrophin-associated, congenital muscular dystrophies, facioscapulohumeral muscular dystrophy, limb girdle weakness, myotonia, oculopharyngeal muscular dystrophy
- Neuromuscular disorders: peripheral neuropathies, ALS, spinal muscular atrophies
- Hereditary movement disorders: ataxia, dystonia, spastic paraplegia, Huntington’s chorea, Parkinsonism
- Person with unexplained: elevated CK levels; ptosis; facial weakness; muscle atrophy
Neurogenetic counselors use their unique specialized education in medical genetics, neurology, and counseling to help physicians and their patients translate complex genetic science into practical, decision-making information to ensure the best patient outcomes.
A neurogenetics counselor takes a complete family history, identifies who in the family is at risk for an inherited neurogenetics condition and provides information about genetic testing and family planning options those individuals.
A neurogenetics counselor also facilitates the genetic testing process: by identifying the most informative family member to test, assessing the most useful genetic test for a patient and their family, interpreting the results, and helping the family and their physicians apply the results to the family’s care.
Genetic counselors help families with hereditary neurologic conditions deal with many of the personal aspects of having an inherited condition in the family, such as decisions about reproductive options and family planning as well as adjusting emotionally to having or being at risk to have a hereditary neurologic condition.
They can also facilitate referrals to long-term resources such as community agencies, condition-specific support organizations, and other families with the same condition.
Pediatric & Clinical Genetics
Pediatric and Clinical Genetics is a medical specialty for children and adults. It involves the evaluation of patients for dysmorphic features, metabolic conditions, and heritable syndromes.
Patients may visit a pediatric and clinical genetic counselor for:
- Abnormal genetic testing results and/or abnormal newborn screening results
- Birth defects
- Neurologic and/or neuromuscular disorders
- Developmental delay/Intellectual disability/Mental retardation
- Autism spectrum disorders
- Failure to Thrive, Short Stature or Overgrowth
- Skeletal/Bone dysplasia
- Vision loss/Hearing loss
- Inherited blood disorders
- Inborn errors of metabolism
- Individuals with dysmorphic features
- Skin/dental disorders with a suspected genetic etiology
- Certain types of pediatric cancer
Genetic counselors specialize in translating complex genetic information into understandable terms for both patients and their health care providers. Genetic counselors work closely with patients and families in order to provide comprehensive information about the diagnosis or possible diagnoses, medical and guidance, and when necessary, risk assessments for the patient and other family members.
Genetic counselors also play a critical role in assisting with the transition of patients from pediatric to adult care. Most importantly, genetic counselors serve as patient advocates and represent a valuable resource for other providers involved in the patient’s care.
Personalized Medicine Genetics
Personalized Medicine (PM), also called genomic medicine by some, involves the capacity to combine molecular-based analyses, medical and family history, as well as behavioral and environmental influences, to identify a person’s risk for common, complex diseases and tailor their care to improve health. The medical community’s definition of personalized medicine continues to evolve.
Many genetic counselors provide genetic services related to genomic and personalized medicine. Some genetic counselors are subspecialized in a particular area of personalized medicine, such as cardiovascular disease, while others provide genetic counseling for a range of conditions.
The PM genetic counselor can provide comprehensive risk assessment and genetic counseling for rare and common complex diseases. PM genetic counselors provide support, education, consultation and guidance regarding currently available genetic and genomic based analyses for the patient, the family and the primary care physician.
A personalized medicine genetic counseling appointment is very similar to genetic counseling provided in other areas of medicine. The genetic counselor will collect a complete family history, providing assessment and counseling for common complex diseases such as cancer, heart disease and psychiatric disorders in the context of genetic, lifestyle, environmental and behavioral risk factors.
The genetic counselor will also discuss any issues identified in the personal and family medical histories which may indicate rare genetic diseases.
The genetic counselor will also provide risk information in general, with personalized assessment of health risks, health screening and health behaviors. The genetic counselor may discuss genetic testing options, the pros and cons of genetic testing, and the implication of genetic testing for the patient and family members.
A genetic counselor can also offer support and counseling to address psychosocial issues that may arise when a genetic condition is identified in a family, or when a client is found to have an increased risk for a particular disease through genomic testing.
Prenatal genetics focuses on potential risks to a current or future pregnancy, including risks for genetic conditions or birth defects.
Prenatal genetic counselors provide information about the risks of chromosomes abnormalities, birth defects or other genetic conditions to individuals, couples or families.
Genetic counselors help facilitate the decision-making process, allowing patients to make informed choices about prenatal screening and testing options. The genetic counselor helps coordinate testing and communicates results to the patient.
Genetic counselors also provide families with resources, educational materials, and short-term psychosocial support.
There are many reasons to refer a patient for prenatal genetic counseling including:
- Women or couples interested in screening or diagnostic testing for a current or future pregnancy
- Women who will be 35 years or older at the time of delivery with a singleton gestation
- Women who will be 33 or older at the time of delivery with a multiple gestation
- Women who have had abnormal results from prenatal screening tests, such as ultrasound or blood work
- Women who have had abnormal results from diagnostic testing, such as CVS or amniocentesis
- Individuals of ethnic groups in which particular inherited diseases are more common, including African-American, French-Canadian, Jewish, Mediterranean or Asian backgrounds
- Women exposed to certain medications, drugs, significant radiation, and/or particular infections during pregnancy
- Couples with a history of multiple miscarriages or infertility
- Individuals who are known carriers of a genetic condition
- Couples in which either parent has a personal diagnosis, previous child, or family history of birth defect, genetic disorder or mental retardation
- Families with known consanguinity
When a pregnancy is diagnosed with a birth defect or genetic condition, a prenatal genetic counselor can help the couple understand the medical information surrounding the diagnosis, including potential causes and risks of recurrence. The counselor will review available testing options and help families understand what to expect during the pregnancy and after delivery.
Genetic counselors discuss options available to the family including continuation of the pregnancy with expectant management, pregnancy termination, or adoption. The counselor is also trained to provide psychosocial support to families during this emotional time.
Counseling can address issues that may arise when the results of carrier or prenatal testing are abnormal, such as feelings of guilt, blame, anxiety, and grief/loss of a normal pregnancy when the fetus is found to have an abnormality.
An appointment with a prenatal genetic counselor usually includes the following:
- Review of the patient’s medical and pregnancy history
- Review of the patient’s and her partner’s family histories
- Discussion of identified risks, including
- Description of the features and characteristics of the condition(s) for which there may be an increased risk
- Review of the results of any relevant testing that has already been performed
- Quantification of the risk for the current or future pregnancy
- Identification of other at-risk family members
- Discussion of testing options, which may involve screening tests (carrier screening, serum screening, ultrasound) or diagnostic tests (chorionic villus sampling, amniocentesis), including
- Discussion of potential results and their implications
- Discussion of pregnancy options, including continuation, adoption, and termination of the pregnancy
- Description and information about non-invasive prenatal testing
Preparing for a genetic counselor visit
To get the most out of your visit with a genetic counselor, there are a couple of things you should do in advance. Start early because some of the steps may take a fair amount of time to complete.
Perhaps the most important of these is to gather your medical records and collect your family health history. You should get information about medical conditions among your siblings, parents, aunts, uncles, cousins, grandparents, children and grandchildren.
Focus on the medical records of those family members who are affected by a genetic condition. And don’t forget to include your own health history.
As part of gathering documentation, gather any genetic test results that you have already taken, and the test results for any family members, if they are available.
Write down any questions you may have or concerns that you would like to have addressed. Be sure to bring a notebook with you to the session to record any information and answers you are given.
If it applies, call your insurance company to ask if the genetic counseling visit will be covered. Also ask if genetic counseling is covered and if so, under what circumstances.
Consider asking a spouse, relative or a friend to come with you on the visit. They can be a great resource for support, to ask additional questions and to remember information after the fact.
Specific things you should gather about your family medical history should include, if possible:
- Age or date of birth, and cause of death for those who have die
- Medical problems any of them had and at what age (even approximately) they were affected, including:
-Birth defects (spina bifida, cleft palate, heart defects, etc.)
-Learning problems or intellectual disabilities
-Vision or hearing loss at a young age
-Multiple pregnancy losses or babies who died in infancy
-Young/early deaths due to known or unknown medical conditions
-Very tall or short stature compared to rest of the family
-Unexplained medical conditions
-Abnormal sexual maturation or delayed puberty
-Unique skin spots or patterns (cafe-au-laits, shagreen patches, port wine stains, etc.)
- For those who have medical problems, include any information that might be helpful, such as whether they smoke, exercise, are overweight,
There are many resources you can access to also help you complete a family history:
- Family Health History Fact Sheet from the National Society of Genetic Counselors
- DNA Banking Fact Sheet from the National Society of Genetic Counselors
- Family health portrait from the U.S. Surgeon General
- Family medical history information from the American Medical Association
- Family health history form from the March of Dimes
Questions you might want to ask a genetic counselor
If you have a diagnosed inherited condition
- What causes the condition?
- What are the symptoms of the condition?
- Does it run in families?
- How likely is it that my children will develop the condition?
- Will the condition get better or worse over time?
- How is the condition treated?
- Is there a cure for the condition?
- Can I lower the chance of getting the condition?
- Where can I learn more about the condition?
- How accurate are the tests for this condition?
- Can I not have this condition but still pass it along to my children?
About genetic testing
- Can genetic testing tell me for sure whether or not I have the condition?
- Can genetic testing be used to learn who in my family will develop the condition?
- Why should I have genetic testing?
- Are there disadvantages to having genetic testing?
- How accurate is the genetic test?
- How will I pay for the genetic test?
- Is my chance for getting an inherited condition high enough to warrant genetic testing?
- How is genetic testing done?
- How long will it take for me to receive the results of genetic testing?
- Who will give me the results of my genetic test and how will I receive the results?
- Should I share genetic test results with members of my family?
- What is carrier screening?
- How should I use carrier screening information?
- Should I take a direct to consumer genetic test?
A condition in a family member
- Could I develop a condition if my relative has it?
- If I have a condition, are my family members at risk of getting it?
- If I don’t have the condition, can I still pass it on to my children?
- If I don’t have the condition, should my brother/sister still get tested?
- Can I get the condition from being around somebody who has it?
About the future
- Could I or my family face discrimination based on genetic information?
- How will a diagnosis affect my health or life insurance?
- What are my medical costs likely to be for a particular condition?
- Where can I go for a second opinion?
- What other health professionals should I see?
- Should I schedule another appointment with you?
- Is there financial assistance available for individuals with this condition?
- Are there organizations or support groups where I can talk to other people with this condition?
- What organizations can help me connect with other people affected by this condition?
- How can I learn more about research into this condition?
- What would you do if you were me?
What is the average cost of genetic counseling?
Patients not covered by health insurance can expect to pay about $150 per hour or more for genetic counseling.
The amount of time required for genetic counseling will vary based on a number of factors and how much research and interpretation is required.
Health insurance will cover genetic counseling in many cases as long as certain criteria are met. But some people still prefer to pay out of pocket due to privacy concerns.
With insurance coverage, a normal out-of-pocket expense will be in the range of $15 to $35.
Does insurance cover genetic counseling and testing?
Many health insurance companies will cover the cost for genetic testing and counseling if a person meets certain criteria indicating that hereditary cancer might run in the family.
Under the Affordable Care Act, insurance companies are required to pay for both genetic counseling and BRCA testing for women who meet certain criteria. For these patients, insurance companies must cover the entire cost of genetic counseling and BRCA testing with no out-of-pocket costs to the individual.
However, the ACA does not cover the following situations:
- Genetic counseling and testing in people who do not meet United States Preventive Services Task Force (USPSTF) guidelines
- Genetic counseling or testing in people with a family history indicative of Lynch Syndrome (associated with colon, uterine, and ovarian cancer) or other hereditary cancer syndromes
- Genetic counseling and testing in men
- Panel testing or testing for genes outside of BRCA1 and BRCA2
- Risk-management services such as increased surveillance and prophylactic surgery
Even in situations that are not covered under the Affordable Care Act, health insurance often covers the costs of genetic counseling and testing. A genetic counselor should be able to assist you in determining if your insurance will cover genetic testing.
They can also assist in helping you to appeal if coverage is denied. In addition, financial assistance is often available for those who require it.
Is it possible to have genetic counseling without genetic testing?
Absolutely. In some cases, genetic counseling can help you determine if you should have genetic testing and if so, what tests to have.
By analyzing your personal and your family health history, it can be determined how likely it is that you or your family member has a genetic condition. Based on this information, a genetic counselor can help you decide whether a genetic test is right for you or not.
One of the more common scenarios when genetic counseling takes place before genetic testing is when a couple is planning for pregnancy. Genetic counseling before you become pregnant can address concerns about factors that might affect your baby during infancy or childhood or your ability to become pregnant.
A counselor may look at conditions that run in you or your partner’s family, if there is a history of infertility, miscarriages or stillbirths, or if any previous pregnancies were affected by birth defects.
Counseling can also take place during pregnancy, especially after the results of a blood test, ultrasound or amniocentesis come back as abnormal.
Counseling may also be a precursor to testing when caring for children who show signs of birth defects, intellectual or developmental disabilities, autism and vision or hearing problems.
Adults can also seek counseling to determine if they should be concerned with conditions such as cancer, muscular dystrophy, heart disease, Huntington’s disease, sickle cell disease or many others.
In all of these cases, as well as many others, following your genetic counseling session, you might decide to have genetic testing. You should also seek counseling after testing to make sure the results are interpreted accurately.
What Happens After Genetic Counseling?
After genetic counseling, you will be armed with the most advanced information regarding your medical conditions and future possible health issues.
With counseling, you will be helped to chart a course of treatment, if appropriate, and given the emotional support you need to help you through any difficult information that may have been revealed as a result of testing and counseling.
You can use your knowledge to chart a long-term course for your healthcare, work with your primary care physician and other specialists related to any conditions you may either have or could develop. And you should experience a certain peace of mind in knowing that you have more control over your own destiny and body going forward.
NSGC offers user-friendly tools and resources to help patients find answers to the questions they may have about genetic counselors.
ACMG is geared more towards academia and for healthcare professionals, but still offers a variety of information for the public
- Goals of genetic counseling.
BB Biesecker. 11 January 2002. ↩
- Becoming Certified.
American Board of Genetic Counseling (ABGC). 2019. ↩
- ABOUT GENETIC COUNSELORS.
National Society of Genetic Counselors (NSGC). 2019. ↩
- The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study.
Caitlin G Allen Jazmine Gabriel Maureen Flynn Tricia N CunninghamCatharine Wang. 29 January 2018. ↩
- What consumer DNA data can and can’t tell you about your risk for certain diseases.
ScienceNews. Society for Science & the Public 2000 – 2019. ↩
- Certification Process.
American Board of Genetic Counseling, Inc. 2019. ↩
- Assisted Reproductive Technologies/Infertility SIG.
National Society of Genetic Counselors. 2019. ↩
- What Happens During Genetic Testing for Cancer Risk?
American Cancer Society. 2019. ↩
- The emerging role of the cardiac genetic counselor.
Ingles, Jodie et al.
Heart Rhythm, Volume 8, Issue 12, 1958 – 1962. ↩