Medical Genetics: Translating Genes Into Health^® 

The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics.

Medical genetics is a branch of biomedical science that studies the relationship between genes and health. Clinical genetics is a primary medical specialty focused on health and illness of individuals and their families.

A clinical geneticist is a physician who specializes in genetic disorders and conditions. Clinical geneticists work in academic, hospital, group and private practice settings.

A cytogeneticist is a laboratory geneticist who studies the relationship between the structure and number of chromosomes and health. Cytogeneticists work in research and/or clinical laboratory settings.

A molecular geneticist is a laboratory geneticist who studies the relationship between mutations in genes and health. Molecular geneticists work in research and/or clinical laboratory settings.

PhD medical geneticists are geneticists with expertise in genetic risk assessment, the interpretation of genetic test results and the communication of genetic information to patients, families and other health care workers. PhD medical geneticists work in clinical and/or laboratory settings.

A genetic counselor is a health care professional with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counselors enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.

Genetic counselors work as members of a health care team, providing information and supportive counseling to patients and families affected by or at risk for genetic conditions.  Genetic counselors work with patients, families, physicians and laboratories to identify genetic risks, investigate problems, interpret and communicate information about genetic disorders, analyze inheritance patterns and risks of recurrence and review available options with patients and families.

Medical geneticists include both clinical geneticists and clinical laboratory specialists. For both career paths, one must complete post-baccalaureate programs to acquire doctoral degrees. Clinical geneticists are physicians with MD or DO degrees. Laboratory specialists include Biochemical geneticists, cytogeneticists, and molecular geneticists, and they can be physicians with MD or DO degrees, laboratory scientists with PhD degrees, or clinical scientists with an MD or DO degree and a PhD degree.

The American Board of Medical Genetics (ABMG) is the certifying Board for medical geneticists in the United States. The ABMG is one of 24 medical specialty boards recognized by the American Board of Medical Specialties (ABMS). The ABMG offers certification examinations in the following areas: Clinical Genetics, Clinical Biochemical Genetics, Clinical Cytogenetics and Clinical Molecular Genetics. The ABMG also offers subspecialty certification in Medical Biochemical Genetics and, jointly with the American Board of Pathology subspecialty certification Molecular Genetic Pathology.

To become Board certified by the ABMG in one or more specialty area(s), medical geneticists must complete residency and/or post-doctoral training in an accredited medical genetics training program and pass certification examinations. The length of training required varies depending on the type of training and number of specialty certifications sought. Training typically spans 2 to 5 years. For more information about accredited training programs and the specific degree and training requirements for each medical genetics specialty visit the Accreditation Council for Graduate Medical Education (ACGME), the ABMG and the Graduate Medical Education in Medical Genetics brochure from the ACMG.

Fellows of the ACMG must possess at least one relevant doctoral degree (MD, DO, PhD) and be Board certified by the ABMG, the Canadian College of Medical Geneticists (CCMG), or the Royal College of Physicians and Surgeons of Canada (RCPSC) in one or more medical genetics specialty areas.

Genetic counselors complete post-baccalaureate programs to acquire graduate degrees. Most genetic counselors have a Master's degree in genetic counseling, but some have a doctoral degree.

The American Board of Genetic Counseling (ABGC) is the certifying Board for genetic counselors and offers certifying examinations in genetic counseling.

To become Board certified as a genetic counselor by the ABGC, candidates must complete post-baccalaureate training in an accredited genetic counseling training program and pass certification examinations. The length of training required varies depending on the type of post-baccalaureate degree sought. Training typically spans 2 to 5 years. For more information about accredited training programs and the specific degree and training requirements for genetic counselors, visit ABGC.

You can search for clinical geneticists through the ACMG website.

You can search for genetic counselors through the National Society of Genetic Counselors (NSGC) website.

During your visit, your clinical geneticist may ask questions about your medical history (or the patient's medical history, if you are not the patient). Your clinical geneticist may also ask about the reason for your visit, the pregnancy and delivery of the patient, prior medical tests, and/or other doctors seen. Other questions might also be asked, depending upon your age, concerns, and/or symptoms. If you have records of prior medical tests and/or doctor's visits related to the reason for your visit, it might be helpful to bring those records with you.

Your clinical geneticist may also take a family medical history. The purpose of this activity is to learn as much as possible about your biological (genetic) relatives (or the patient's biological relatives, if you are not the patient). A family medical history can be an important tool because it can provide clues about the possible causes of the medical problems or concerns, and the types of tests that might be helpful in reaching a diagnosis. If the patient is a child and you prefer not to discuss family medical history information in front of the child, let your clinical geneticist know. Before your appointment with the clinical geneticist you can simplify the process of collecting your family medical history by thinking about the health and illnesses of your relatives, paying particular attention to family members who have medical problems or a physical appearance similar to yours (or the patient's). It is important to gather as much family medical history information as possible, but you may not be able to learn everything about the medical history of everyone in your family, particularly beyond your parents' or grandparents' generations. In gathering your family medical history information, you should think about living relatives, deceased relatives, and any miscarriages or early deaths that have occurred in your family. Your clinical geneticist may also ask you about your ethnicity and ancestry because some ethnic groups are at higher risk than others for particular genetic disorders or conditions and this information might help your clinical geneticist arrive at a diagnosis or decide what additional tests might be helpful. A helpful tool for recording your family's medical history called "My Family Health Portrait" is available through the US Department of Health and Human Services (DHHS). In addition, if there are family members who look a lot like the patient, bring pictures of them to the visit, if possible. If the patient is a child and both parents cannot attend the visit, bringing pictures of the absent parent might also be helpful.

Also during your visit, your clinical geneticist may perform a detailed physical examination. He/she may order one or more tests to provide more information or confirm a diagnosis. Your clinical geneticist may also talk to you about a treatment plan and/or a schedule for follow up visits, and might refer you to other medical specialists for a more thorough evaluation of particular medical problems or to genetic counselors or social workers for access to information and support services.

A family medical history, sometimes called a family history or pedigree, is a picture of your family's health and illnesses. The reason for collecting a family medical history is to learn as much as possible about your biological (genetic) relatives (or the patient's biological relatives, if you are not the patient). A family medical history can be important because it can provide clues about the possible causes of the medical problems or concerns, and the types of tests that might be helpful in reaching a diagnosis.

When collecting your family medical history information, think about your relatives' health and illnesses, paying particular attention to other family members who have medical problems or a physical appearance similar to yours (or the patient's). It is important to gather as much family medical history information as possible, but you may not be able to learn everything about the medical history of everyone in your family, particularly beyond your parents' or grandparents' generations. In gathering your family medical history information, you should think about living relatives, deceased relatives, and any miscarriages or early deaths that have occurred in your family.

In collecting your family medical history information, you should also think about your ethnicity and ancestry because some ethnic groups are at higher risk than others for particular genetic disorders or conditions and this information might help your clinical geneticist arrive at a diagnosis or decide what additional tests might be helpful.

A helpful tool for recording your family's medical history called "My Family Health Portrait" is available through the web site of the US Department of Health and Human Services (DHHS).

Newborn screening is the systematic screening of newborn babies in the United States (US) to identify babies at increased risk for certain disorders. The purpose of newborn screening is to identify babies with certain congenital genetic, metabolic, or infectious disorders early, in an effort to improve their long term health. After newborn screening, some babies may be referred for further testing that can include diagnostic tests to determine if early treatment is needed.

Newborn screening programs are public health programs operated by each individual State. At birth, a blood spot is collected from each newborn and sent to a laboratory for testing. The particular disorders screened for using the blood spot sample varies from State to State. There is currently an effort to develop national standards for newborn screening. The goal of this effort is to assure that every newborn in the US is screened for the same panel of disorders, regardless of the State in which they are born. More information about newborn screening is available through the National Coordinating Center for Genetics and Newborn Screening Regional Collaborative Groups (NCCRCG), the March of Dimes and the National Newborn Screening & Genetics Resource Center (NNSGC).

Newborns in the US are also screened for hearing loss at birth by administration of a hearing test. This screening process is called newborn hearing screening. After newborn hearing screening, some babies may be referred for further testing that can include diagnostic testing to determine whether a baby has hearing loss.

Many genetic tests, procedures and clinical geneticist visits (genetic services) are covered by medical insurance, however, some are not, and coverage varies between insurance companies. Coverage may also depend on whether your clinical geneticist, or laboratory in the case of a genetic test, is an approved provider for your insurance company. Insurance coverage of genetic services is changing continuously as increasing numbers of genetic services are being covered by insurers. If you have questions about insurance coverage, talk to your doctor about who your insurer is, what is likely to be covered, what you might be expected to pay for, and how much you might be required to pay. In some cases, you (or your doctor) may need to call your insurance company and ask what will be covered and whether you need pre-approval for genetic services.

Your doctor may be able to tell you whether your genetic tests, procedures, or visits to a clinical geneticist (genetic services) will be covered by your health insurance. Sometimes, it will be necessary to call your insurance company and ask what will be covered. It may also be necessary to call your insurance company before your visit to a clinical geneticist to get pre-approval for the visit, and at the time of your appointment to get pre-approval for any recommended tests or procedures (genetic or not). In some cases your clinical geneticist may make this call for you. In other cases, you may be asked to do this.

When doctors bill insurance companies for medical tests, procedures and services, they use a series of codes called CPT codes (Current Procedural Terminology codes) to identify the services provided to a patient. To gather the best information from your insurance company about what genetic services will be covered, you might need to have a list of the CPT codes that your doctor will be billing. For certain medical tests or procedures (genetic or not) your doctor may also be required to provide the insurance company with documentation of medical necessity

There are a variety of available resources for information and support services relating to genetic conditions. Much of the information that is published about genetic conditions is general in nature and may not apply fully to you. Ask your clinical geneticist or genetic counselor for information and resources related to your (or your child's) condition.

A great deal of medical information is available today through the Internet but you must be careful of who is providing the information and how up-to-date the informaton is. Always discuss any information you find and any questions you have with your clinical geneticist or genetic counselor.

The Genetic Alliance is a coalition of advocacy groups, health professionals, and health care entities including hospitals, clinics and companies. The Genetic Alliance offers access to a number of different resources for patients and families living with genetic conditions.

Genetic testing is the examination of an individual's chromosomes, genes, proteins and/or other analytes for alterations associated with genetic disorders or conditions.

Medical genetic tests may provide a definitive diagnosis of a genetic disorder, identify one's risk for developing a particular genetic disorder, or determine whether an individual is at risk for having a child with a particular genetic disorder. In cases where a patient has symptoms that are suggestive of a disorder but not definitive, genetic testing may help in reaching a diagnosis.

Medical genetic tests may also help with genetic counseling of patients and their families so that family members can learn what genetic disorder is occurring in their family, identify their risks for developing the disorder, and understand their risks for having children with the disorder.

Medical genetic tests can also sometimes help predict the severity of a disorder or determine the best course of treatment for a patient.

If negative, medical genetic tests may rule out a particular genetic disorder in a patient or allow for recalculation of the risk that a particular genetic disorder might occur in an individual or their children.

Most medical genetic tests are specific for a particular disorder and cannot identify disorders not directly tested. For example, a molecular genetic test for cystic fibrosis will not identify genetic alterations associated with Down syndrome. Alternatively, a chromosome analysis (karyotype) can detect a number of conditions caused by abnormalities in the number or arrangement of chromosomes such as Down syndrome or Turner syndrome but a karyotype will not diagnose cystic fibrosis. The type of medical genetic test ordered for a patient must take into account the patient's symptoms, concerns, family medical history, and/or ancestry, and be appropriate for the genetic condition in question.

Although medical genetic tests can often help with the diagnosis of a genetic disorder, they may not always be able to predict the age of onset or severity of a disorder, or determine the best course of treatment for a patient.

If negative, medical genetic tests may offer limited information leaving the doctor, patient, and family knowing little more than they did before the test.

The physical risks associated with genetic testing are typically small, especially if the test being ordered requires only a blood or urine sample, or a cheek swab. However, in cases where tissue samples or biopsies are required the physical risks of the test may be higher and will depend on the type of sample that is required and how it must be obtained. In the case of prenatal testing, some tests such as chorionic villus sampling (CVS), amniocentesis, or fetal blood sampling (cordocentesis) have a small risk of miscarriage (losing the pregnancy), while other tests such as fetal ultrasonography do not.

There can be emotional and social consequences associated with genetic testing such as feelings of anger, guilt, anxiety, or depression. These feelings can affect the individual being tested and their relatives, particularly if the test results reveal a previously unsuspected risk for a genetic disorder or if some relatives do not want to know the results of the genetic tests. In some cases, genetic tests can also reveal previously unknown information about familial relationships such as nonpaternity or undisclosed adoption. These potential consequences of genetic testing can complicate the relationships within families.

Some people have concerns about financial consequences of genetic testing such as the potential for discrimination in or loss of employment or insurance. In May, 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into federal law. GINA offers protection against genetic discrimination in health insurance and employment. For more information about GINA, visit the website of the Coalition for Genetic Fairness.

Talk to your clinical geneticist or genetic counselor if you have concerns about the potential risks of genetic testing.

Email us at acmg@acmg.net.