Frequently Asked Questions about Genetic Services

  1. What are genetic services?
    Genetic services are specialized medical services that focus on the detection, care and management of health issues arising from changes in a person’s genetic material.

  1a. What genetic services are available?

  1b. What is genetic screening?
    Genetic screening refers to tests used to predict the likelihood of having a particular disease. Screening for genetic disease or genetic predisposition may provide an opportunity to prevent the effects of the disease. Individuals with positive screening results can have further diagnostic testing or examination to determine if they truly have the condition.

    There are several different types of genetic screening. The most widespread type of genetic screening is newborn screening, which is completed on all newborns in the United States. Newborn screening is completed for disorders that may not be apparent at the time of birth, but which may have serious complications if they are not identified and treated early. To see which conditions your state screens for click here http://genes-r-us.uthscsa.edu/resources/newborn/state.htm

    Other types of screening are carrier screening, and screening for predisposition to disease.

   1b1.  What is newborn screening?
    Newborn screening is the practice of testing every newborn to detect harmful or potentially fatal disorders that aren’t otherwise apparent at birth. Many of these are metabolic disorders that interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through newborn screening include problems with hormones or blood. (http://www.kidshealth.org/parent/system/medical/newborn_screening_tests.html)

    A positive newborn screen does not necessarily mean a child has a disorder. When a child has a positive screen, the parents and the child’s doctor are notified so further testing can be done to determine if the child has a disorder.

  1b2.  What is carrier screening?
    Carrier screening is used to identify people who carry one copy of a hidden gene that, when present in two copies, (e.g. inherited from both parents), causes a genetic disorder. This type of screening is designed for healthy people who have no symptoms of disease, but who are known to be at high risk because of family history or because they belong to an ethnic group with an increased risk of specific genetic conditions (such as cystic fibrosis, sickle cell disease, and Tay Sachs disease). When both parents are tested, the test results can provide information about a couple's risk of having a child with a genetic condition.

   1b3.  What is screening for predisposition to disease?
    This type of screening looks for genetic changes in an individual to help predict the likelihood that a person will develop the disease in the future. The screening results may help people at increased risk for developing a disorder to make health and lifestyle changes to reduce this risk.

  1c.  What is a genetic consultation?
    A genetic consultation involves meeting with a genetic counselor and a medical geneticist to discuss genetic conditions or inherited conditions. There are four basic components of a genetic consultation:
  • Diagnosis requires taking an accurate and detailed medical and family history; and possibly conducting a physical examination and laboratory tests.
  • Information Counseling provides information and education to the patient and family.
  • Supportive Counseling offers emotional and psychological support to families, as well as referral to support groups concerned with a specific condition, and other resources.
  • Follow-up includes a written summary of the genetic consultation and the long term medical recommendations that is sent to you and your family doctor.

  1d.  What is genetic counseling?

   1e.  What is genetic testing?
    Genetic testing is a type of laboratory test that looks for changes in a person’s genetic material (DNA, genes or chromosomes) or in the proteins that the genes make. Generally, genetic testing is done by taking a blood sample, but sometimes other body samples (like cheek cells or skin) are needed. Not everyone who comes for genetic consultation will have a genetic test. This is because there are many genetic conditions for which no test is available. The medical geneticist and genetic counselor will explain if genetic testing is available. They also will tell you how and where the test will be done, who in the family is the best person to be tested first, and how long it will take to receive results. Genetic testing continues to advance rapidly. If your family has already had genetic testing and you still have concerns, you may want to explore the availability of new tests or improvements in the accuracy of testing. A medical geneticist or genetic counselor can help you with information on advances in genetic testing.

   1f.  Is genetic testing voluntary?
    Genetic testing, including prenatal testing, is voluntary. You have the right to refuse testing. Genetic professionals will provide you with information to make an informed choice – you make the choice that is right for you and your family.

   1g.  What is medical management?
    For the person with a genetic condition, long-term services may be required from a variety of health care professionals. These health care professionals working together with a single patient are referred to as the clinical team or health care team. Medical management refers to the planning and coordination of the health care services provided by the clinical team to improve the health outcomes of patients with genetic conditions.

    Medical management relies on good communication between you and your team so that you can work together to develop a care plan based on clinical guidelines that address your individual needs. The team will educate you about your genetic condition and will teach you how to manage the condition, which may prevent or delay disease progression.

  1h.  What is care coordination?
    Care Coordination: Care coordination engages families in the development of a medical home. A medical home is not a place but instead an approach to providing comprehensive care. Care coordination in the medical home includes ensuring a care plan is in place linking families to services that address the full range of their needs and concerns. A medical home allows the family to play a central role in their child's care. This central role includes recognizing individual child and family needs, strengths and concerns. Care coordination aims at meeting family needs, building family capacity and improving systems of care. Care coordination requires service providers, families and agencies to work together to provide individualized care and support to improve outcomes for the child.



  2. What is a genetic condition?
    A genetic condition is a disease or disorder caused, at least in part, by the genes of the person with the disease/disorder. Inherited conditions are genetic conditions that can be passed on from generation to generation. In order for a genetic condition to be inherited, the disease causing gene must be present within one of the parent’s genetic code. Not all genetic conditions are inherited conditions. For example, Down Syndrome is a genetic condition that typically is not inherited.

  2a.  What causes a genetic condition?
    Some health and developmental conditions are the result of a fault or defect in the genetic information; others are due to a combination of the inherited genetic information and environmental causes such as diet, chemical exposure and lifestyle. Genetic conditions are typically broken down into three types: chromosomal, single gene and multifactorial.

  2a1.  What are chromosomal disorders?
    Chromosomal disorders result when a person has too many or too few chromosomes, or when there is a change in the structure of a chromosome. Half of all first trimester miscarriages or spontaneous abortions occur as a result of a chromosome abnormality. If the child is born, s/he usually has multiple birth defects and mental retardation. Most chromosomal disorders are not inherited.

   2a2.  What are single gene disorders?
    Single gene disorders are caused by non-working genes. Single gene disorders are the easiest to identify as true genetic disorders since they are caused by a mutation (or a change) within a single gene or gene pair.

   2a3.  What are multifactorial disorders?
    Multifactorial disorders are very common and cause a majority of birth defects. Although they are inherited, it is unclear exactly why they occur. The existence of multifactorial disorders depends on the presence of both hereditary and environmental factors. Common disorders such as cancer and hypertension are examples of health problems caused by the environment and heredity.

  2b.  How common are genetic conditions?
    Although most individual genetic conditions are relatively uncommon in the general population; collectively, they occur more frequently then people often realize. About three to five percent of infants are born with some type of physical birth defect, many of which have a genetic basis. About 50% of cases of cognitive impairment are thought to have a genetic cause. Even chronic adult diseases and cancer can have a significant genetic component. Overall, it is estimated that about 10% of people may have a genetic condition. (http://www.kumc.edu/gec/prof/prevalnc.html#international)

   2c.  Are genetic conditions apparent at birth?

   2d.  What are some common genetic conditions?

  3. Will I benefit from genetic services?
    You may benefit from genetic services if you are looking for information about, or support for, a medical condition with a known or possible genetic component affecting you or a close family member. For example:
    • If you have questions about disorders or traits that run in your family.
    • If you have family members with birth defects like cleft palate or genetic disorders like Down Syndrome, Huntington’s Disease or Muscular Dystrophy.
    • If you share similarities with any of the following groups of people:
      • Women whose pregnancy may be at increased risk for complications or birth defects based on age, blood tests, ultrasound findings or family history.
      • Women who have had two or more miscarriages, a stillbirth, or a baby who died.
      • Women considering pregnancy or who are pregnant and taking prescription medications.
      • Couples planning a pregnancy who would like more information about genetic conditions that occur more frequently in their ethnic group.
      • Couples who would like prenatal testing.
      • Couples who are blood relatives.
      • Parents whose child has any of the following: developmental delays, a birth defect, behavioral problems, health issues in multiple body systems, or has been diagnosed with a genetic condition.
      • Individuals who are concerned about their personal risk for disease based on lifestyle, occupational exposures, medical history or family history.
      • Individuals who are concerned about their risk of developing cancer based on personal or family history.
      • Individuals with a genetic condition who want to learn more about the cause, inheritance, features and possible testing or treatment options.
      • Adopted individuals now planning a pregnancy who want to learn about populations risks and prenatal screening.

  3a. When should I consider seeking genetic services?
    • Before becoming pregnant – preconception services are available if you are interested in learning about your chance of having a baby with a birth defect or genetic condition before becoming pregnant. Genetic counselors can assess risk and discuss ways to improve the likelihood of having a healthy baby.
    • During pregnancy – advances in technology have led to improved prenatal screening and diagnostic testing options for genetic conditions and birth defects. Genetic counselors obtain family history and pregnancy histories, provide accurate risk assessment, explain prenatal tests and treatment alternatives and provide supportive counseling. Information is delivered in a non-directive manner so you can make your own decisions when contemplating prenatal testing.
    • When my child is born – all birthing centers in the United States participate in newborn screening. Newborn screening is the practice of testing every newborn to detect harmful or potentially fatal disorders that aren’t otherwise apparent at birth. Many of these are metabolic disorders that interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through newborn screening include problems with hormones or blood. A positive newborn screen does not necessarily mean a child has a genetic disorder. When a child has a positive screen, the parents and the child’s doctor are notified so further testing can be done to determine if the child has a genetic disorder.
    • During childhood – you may want to seek genetic services if your child has Identifying a cause of your child’s developmental problems can be helpful. Having a diagnosis may affect your child’s education plan, allow for identification of associated health problems, explain your child’s behavior or appearance, and inform you of recurrence risks with siblings or future children. A genetic evaluation may include a physical examination and a review of medical, pregnancy, birth and family histories. In some cases, additional tests may be offered to help make a diagnosis. If a diagnosis is made, the geneticist can provide information about the condition, prognosis, hereditary nature and available resources. A geneticist, together with your child’s pediatrician, may make referrals to other specialties to provide optimal care and improve outcomes for your child.
    • During adulthood – some genetic conditions may not become evident until adulthood. It also is becoming clear that a number of common adult-onset conditions, such as cardiovascular disease and diabetes, may have hereditary components. Information, risk assessment, genetic testing and support are available for affected adults as well as those at-risk for adult-onset genetic conditions such as Huntington’s Disease, hereditary cancers and polycystic kidney disease.



  4. What if I know there is a genetic condition in my family?
    If you or a family member is diagnosed with a genetic condition, a genetics professional can provide information about the diagnosis, how the condition is inherited, the chance of passing the condition to future generations, and the options for testing and treatment.

  4a. What if my child has a genetic condition?
    There are people and resources to help you care for your child with a genetic condition. A genetic counselor or medical specialist can offer suggestions to help you work with your child’s primary care providers, including family physician, pediatrician, childcare, etc. They also can help you with care coordination and the medical home. Getting in touch with someone who has been through the same thing can be helpful; ask your doctor, a social worker at the hospital or a genetic counselor if they know any other parents in the area who have children with the same or a similar condition. Joining a support group may also help – ask your child’s doctor or specialist for advice about finding local or national support groups. You can find more information about support services on the Family Support Services page of this website.

    The amount of information each person would like to learn varies from parent to parent. There are many ways you can educate yourself – ask your child’s doctors lots of questions and record the answers as best you can. If you are not satisfied with the answers, or if a doctor is not able to answer your questions thoroughly, don’t hesitate to seek second opinions. Additional places to get information include: books written for parents of children with genetic conditions, national organizations, such as the March of Dimes, the National Information Center for Children and Youth with Disabilities, or those representing your child’s specific birth defect; support groups or other parents.

    Many parents find it helpful to keep a binder with a running list of questions and the answers they find, as well as suggestions for further reading and any materials the child’s doctors and other health care providers give them. It also is a good place to keep an updated list of all your child’s health care providers and their phone numbers, as well as emergency numbers so that they can be reached quickly and efficiently.

    Part of the information collection process should involve exploring options for paying for treatment and ongoing care for your child. There may be extra medical and therapeutic costs associated with caring for a child who has a genetic condition. In addition to health insurance, there are many resources available to parents of children with special health care needs, including nonprofit disability organizations, private foundations, Medicaid and state and local programs. A hospital social worker, genetic counselor, specialist or staff in your primary care provider’s office should be able to help you learn more about these resources.

    Early intervention is an important service for children up to three years of age with, or at risk for developmental delay that is designed to bring together a team of experts to assess your child’s needs and establish a program of treatment and service coordination. Early intervention services include things such as identification of assistive technology that may help your child, occupational therapy, physical therapy, speech therapy, developmental intervention and social work services. In addition to identifying, evaluating and treating your child’s needs, early intervention programs will:

    • Tell you where you can get information about your child’s condition.
    • Help you to learn how to care for the developmental needs of your child at home.
    • Help you to determine your payment options and tell you where you can find free or reduced-fee services.
    • Provide counseling to you and your family as related to your child’s disability.
    Your child’s doctor, a social worker at the hospital where you gave birth, your local health department or your local school district should be able to connect you with the early intervention program in your area.

    Many children with special health care needs require a team of professionals to treat them. Even if your child sees only one specialist, that person will need to coordinate care with your child’s primary doctor. Although some hospitals already have teams in place to deal with problems such as heart defects, cleft lip and palate, or cerebral palsy, you may find yourself having to serve as both the main point of contact between the different care providers and the coordinator of your child’s appointments. As soon as you are able, get to know the different team members. Make sure they know who else will be caring for your child and that you intend to play a key role.

  4b. What if I have a family history of cancer or adult-onset disorders?
    Genetic testing for inherited cancers and adult-onset disorders helps you and your doctor understand your true risk so you can make the best choices for preventive medical care. Knowing your family history is a very important first step, but genetic testing can provide a more accurate assessment of your inherited risk.

  4c. What if I have a family history of cancer?
    Some types of cancers are known to be hereditary. Genetic counseling for cancers may be of value for people with a personal or family history of:

    • Cancer with an early age of onset.
    • Cancer affecting multiple generations (does not need to be the same type of cancer).
    • Cancer involving multiple primary sites (e.g., in more than one organ in the body) or bilateral involvement (e.g. inb both breasts)
    • Unusual cancers, such as male breast cancer.
    • A known hereditary cancer syndrome and/or a previously identified susceptibility gene.
    Through an assessment of family history and medical records, genetic professionals can determine if you may be at risk for a hereditary predisposition to cancer. Hereditary predisposition refers to something being passed naturally from parent to child through the genes. For some types of cancer, a family history of a gene mutation has been identified. Your family history information can help you and your doctor make an informed decision about testing. A genetic counselor can talk with you about the benefits and limitations of tests as well as psychological, insurance and confidentiality issues. Having a better understanding of your inherited risk may help to prevent the onset of cancer or allow for early detection and therefore a better chance for a cure.

  4d. Can an adopted child be tested to rule out potentially harmful genetic conditions?



  5. Who provides genetic services?
    Generally, medical genetic services are provided by health professionals called genetic counselors or medical geneticists (doctors who specialize in genetics). Medical genetics is a branch of medicine specializing in detecting both inherited conditions, that is things that result from our genetic make-up; and genetic changes that may show an increased risk of certain conditions, such as cancer or heart disease.

  5a. What is a medical geneticist?
    A medical geneticist is a doctor who has special training in diagnosing and treating patients with genetically linked conditions.

  5b. What is a genetic counselor?
    A genetic counselor is a health professional with a graduate degree and experience with medical genetics and counseling. Genetic counselors provide information and support to people who may have, or are at risk for, a variety of inherited disorders. They also discuss genetic testing options so people can make fully informed decisions about whether to undergo genetic testing.

  5c. Are genetic counselors and medical geneticists different?



  6. How can I find a genetic professional?



  7. How do I get a genetic appointment?
    Genetic experts meet with individuals or families by appointment, either by referral from their physician, other professionals, or by personal request. Consultations usually take place in a genetic center, doctor’s office, hospital, or other type of medical center. Some centers have satellite clinics that are designed so people can seek genetic services in a setting closer to home.

  7a. Can I make an appointment myself?
    Yes. Genetics professionals will meet with individuals or families who self refer. However, some insurance companies require a referral for the service to be covered. Be sure to check with your insurance provider – sometimes the genetic center can help you with this. If you choose to self refer, an appointment often can be made by contacting the genetics department at the clinic or hospital that you are interested in visiting. Contact information for genetic centers in Region 4 is available by clicking on this link: . Map of genetic centers and specialists in Region 4

  7b. Will my doctor refer me for genetic services?
    If you have been diagnosed with a genetic condition or have been recommended for genetic testing, your doctor should refer you to a genetic counselor or medical geneticist. Other reasons that your doctor might refer you for genetic services include if you:
    • Have a personal or family history of a genetic condition, birth defect, chromosomal disorder or hereditary cancer.
    • Have had two or more pregnancy losses (miscarriages), a stillbirth or a baby who died.
    • Are pregnant or plan to become pregnant at or after age 35. (Some chromosomal disorders occur more frequently in children born to older women).
    • Have abnormal test results that suggest a genetic or chromosomal condition.
    • Have an increased risk of developing or passing on a particular genetic disorder because of your ethnic background.
    • Are related to your partner by blood (for example, cousins) and plan to have children together. (A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.)
    • Have unanswered questions about disorders or traits that run in your family.



  8. How do I prepare for my genetics appointment?
    To get the most benefit from your genetics appointment, gather information about your family medical history and write down questions you want answered. You might want to ask other family members if they would like to go with you.

  8a. What should I bring with me to my appointment?
    Generally, it is helpful to have a record of any surgeries or medical procedures that have taken place. Also, if you have them, bring copies of medical records (such as test results, letters, discharge instructions, etc.). If you or your child has had visits with many doctors, a list of their names would be helpful. Go over your family’s medical history and ask if anyone has had similar problems, learning problems, birth defects or miscarriages. Ask about the ages at which these conditions were diagnosed. Bring this information about your family history with you. In situations where there is concern about the significance of atypical physical findings, family pictures would be helpful.

  8b. What types of questions might I ask at a genetics visit?
    The following list of questions can help you prepare for your genetic visit. You may find it helpful to print this section and take it with you.
    • What causes this condition?
    • What are the features of this condition?
    • What are the long-term effects of this condition?
    • What is the life expectancy of someone with this condition?
    • How is this condition treated?
    • Is there a cure for this condition?
    • What other health care professionals should I see?
    • What special care does a person with this condition require?
    • Will this condition improve or worsen over time?
    • Are there tests available to see if a person is affected with, or is at risk for, this condition?
    • How accurate are the tests for this condition?
    • Is this condition passed from one generation to the next?
    • Can a person not have this condition but still pass it on to his or her children?
    • Can a person get this condition from being around others who have it?
    • Could my children or siblings have this condition?
    • How will this diagnosis affect my health/life insurance?
    • Where can I go for a second opinion?
    • What are the medical costs likely to be?
    • 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? How do I contact or get information about such organizations or support groups?
    • When might it be appropriate to see you again?
    • Are there other members of my family who may be at risk?

  8c. Who should I bring with me to the appointment?
    If the patient is a child, it is helpful but not required for both parents to accompany the child who is referred for a genetic evaluation. In situations where there is concern about the significance of atypical physical findings, family pictures would be helpful. If the patient is an adult, a spouse, family member or close friend who could provide support may attend the appointment. If several members of your family are affected with or are at risk for the same condition, then it might be helpful for those individuals to accompany you to your appointment. However, if a family member would like to be fully evaluated, s/he should also schedule a separate appointment.



  9. What happens during a genetic consultation?

   9a. How long is a typical genetic consultation?

  9b. Will I need more than one visit?
    The number of visits that you will need depends on the reason for your appointment. For pediatric consultations, it may take several visits to fully evaluate your child. For adults who are interested in genetic testing for inherited predisposition to certain cancers, at least two visits will be required. Adults coming in for preconception or prenatal counseling often come for one appointment, although occasionally more than one visit is necessary. For other types of adult visits, it will depend on your specific situation. Periodic visits and phone contacts may be necessary.



  10. Why are genetic services important?
    Genetic services are important and valuable for a variety of reasons. A genetic consultation can:
    • Help clarify genetic risks.
    • Provide a diagnosis for unexplained symptoms.
    • Provide information for family members.
    • Identify an unrecognized need for specialized care.
    • Help you and your family gain access to new testing, clinical trials and support organizations.
    A genetic professional will NOT:
    • Tell you which decisions to make.
    • Advise you not to have children.
    • Recommend that you continue or end a pregnancy.
    • Tell you whether to undergo testing for a genetic disorder.

  10a. What do genetics services accomplish?
    The ultimate goal of genetic evaluation and counseling is that you and your family understand the medical facts, the diagnosis, the recurrence risk of a genetic condition and your options for dealing with them. It is about assisting you in making the best possible adjustment to a situation.



  11. How do I pay for genetic services?
    Genetic services are often, but not always, covered by insurance. Insurance coverage depends on your specific policy and the reason for your genetic consultation. Often, a physician referral or letter of medical necessity provided by your physician can help. You can find out if genetic services are covered by calling the customer service phone number on your insurance card. The insurance company may ask for specific codes or test names in order to determine coverage. In addition, costs and fees for services are not the same at every genetic center. Follow up with the genetic center to get this information. For families who do not have or choose not to use their health insurance coverage, Genetic Centers in some states receive federal or state funding allowing them to provide services to eligible families based on a sliding fee scale. Some genetic services are covered by Medicaid. Most states also provide funds to eligible families to assist with medical costs for their children with special health care needs.

  11a. How do I pay for genetic testing?
    If you have insurance, it may cover genetic testing. Sometimes insurance coverage varies depending on why you are having the genetic testing. You can find out if genetic testing is covered by calling the customer service phone number on your insurance card. The insurance company may ask for specific codes or test names in order to determine coverage. The genetic professional at your consultation can provide the codes and name of the test they are recommending. Genetic testing will be billed in the usual way – to your insurance provider if you have insurance and if it is covered. It you do not have insurance, or it is not a service covered by your insurance, you will be responsible for payment.



  12. Are the results of my genetic test/evaluation confidential?
    As with all medical information, genetic test results and information gained from genetic counseling sessions are private and confidential. Your personal choices regarding your medical care and management, including the decision to undergo testing, are respected.

  12a. Who can gain access to my genetic test results?
    Genetic test results are strictly confidential. Test results are released only to the doctor who ordered the test. Even when insurance plans pay for testing, the insurer does not receive the results. Records, including test results, are not given to anyone without your written permission. Furthermore, none of your medical information can be given to other family members without your permission.

  12b. Can I be discriminated against based on my genetic information?
    There are laws in place to help protect people from health and employment discrimination. Genetic discrimination is prohibited by law. Federal laws prohibit discrimination based on genetic information. Most states have additional laws that prohibit such discrimination.

  12c. What happens when I receive my results?
    Your results will be released only to you and those you specifically identify to receive the information. If you test positive for a genetic condition or risk factor, clinical genetic services are available to help you manage your health; including:
    • Genetic counseling.
    • Linkage to genetic service providers.
    • Linkage with the medical home.
    • Communication with other specialty and subspecialty providers.
    • Recommendations for follow-up with your primary care physician.