zGenetics Basics

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Genetics 101

A basic understanding of genetics is becoming more and more important in many different areas, including medicine, law, agriculture, statistics, sociology, psychology, and many others. This section is intended to provide a simple introduction to genetics and its application in the world.

Why should everyone know a little about genetics?

(courtesy of the American Society of Human Genetics)

Most of your physical traits, such as eye color, hair color, and height, are inherited. So, too, are risks for health problems, such as heart disease, diabetes, and some cancers. In fact, all diseases or medical conditions have a genetic component (except trauma).

By knowing a little about genetics, you will understand how variations in your DNA may affect your health. You may also learn what health problems you may be at increased risk for in the future and how to reduce your risks.

Useful resources for basic information on genetics:

Genes and Disease

Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. The genetic disorders are organized by the parts of the body that they affect. With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites.

Genetic Disorders

Information on different genetic disorders from the Genetic Sciences Learning Center at the University of Utah. Graphics and pictures make this information understandable and useful.

Genetics Education Center

Genetics Education Center is a resource for educators with an interest in human genetics and the human genome project.

Genetics Home Reference

Genetics Home Reference is the National Library of Medicine’s web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions. Information is provided on genetic conditions, genes, chromosomes, and a glossary of medical and genetic definitions.

Genetic Support Foundation

This organization is an independent, non-profit organization committed to providing objective and up-to-date information about genetics.  The website contains some basic information about key issues in health and genetics.

Genetics and Family History

A complete family health history is one of the best tools available for recognizing genetic conditions. A family history can help health professionals diagnose a genetic condition, or determine the possibility that one may occur in family members.

Knowing your family health history is important.  The Statewide Genetics Services System recommends that all individuals have an updated family history in their medical record. Ask your health care provider if there is one in your medical record.

One way to record your family health history is in a pedigree.  This is a detailed chart of your family.  If you ever see a Genetic Counselor, he/she will likely make a pedigree. Click here to learn how to document your own family health history with a pedigree.

Tools for Recording Family History:

You can also record your family health history on your own, using these and other tools:

US Surgeon General Family History  My Family Health Portrait can help you to gather and examine your family history. This free, web-based tool creates a drawing of your family tree and a chart of your family health history. These can be shared with family members or your health care provider.

CDC Family History Webpage  This site provides activities, research and links to all things related to the use of a family history in health and medicine.

Types of Medical Genetics Professionals

There are many different types of genetics professionals.  A few are described here:

What is a genetic counselor?

Genetic counselors are health professionals with specialized graduate degrees (Master’s degrees) and experience in the areas of medical genetics and counseling. They work as members of a health care team, providing information and support to families who have members with genetic disorders or who may be at risk for inherited conditions.

Want to see a genetic counselor in action?  Click here to see some videos of (simulated) genetic counseling sessions with patients and families.

What is a medical geneticist?

Medical geneticists, also known as clinical geneticists, are physicians (MD’s or DO’s) who complete specialized residency and/or fellowship training in medical genetics.  They diagnose, manage and treat patients with genetic diseases.

What is a clinical laboratory geneticist?

Clinical laboratory geneticists can hold either MD, DO or PhD degrees. These individuals oversee and work in laboratories that perform diagnostic genetic tests. Clinical laboratory geneticists develop and implement new tests, provide ongoing quality assurance of routine tests, interpret test results and communicate  results to health care providers. Training involves an additional fellowship following the completion of a PhD degree or a medical genetics residency.

Frequently Asked Questions About Genetics Healthcare Services

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Why would I seek an appointment with a genetics specialist?

There are many reasons why someone might seek an appointment with a genetics specialist.  Below is a list of some of those reasons.  If you or your family members have any of these indications, please discuss a genetics referral with your primary care provider.

Information about the following appointment types can be found below

  • Prenatal and/or Preconception Genetic Appointments
  • Pediatric or General Genetic Appointments
  • Cancer Genetic Appointments
  • Adult Genetic Appointments

Prenatal/preconception genetics

If you and/or your partner have questions/concerns about:

  • A genetic condition that runs in the family
  • Future childbearing, given that you have a child with a genetic condition
  • A family member with mental retardation or birth defects
  • A history of infertility or pregnancy loss (miscarriages/stillbirths)
  • Risks of increasing maternal and/or paternal age
  • An abnormal prenatal testing or ultrasound result
  • Being a carrier of a genetic condition
  • Exposure to a medication, drug, or a chemical while pregnant

Pediatric/General Genetics

If you have a child (or family member) with:

  • Characteristics that are different from the rest of the family
  • Poor weight gain
  • Heart defects
  • Seizures
  • Delays in reaching developmental milestones
  • Low or floppy muscle tone
  • Abnormal newborn screening result
  • Hearing loss
  • Family history of childhood cancers
  • A birth defect (e.g. cleft lip/palate) or developmental delay
  • Under or overgrowth (ex. short stature or leg discrepancy)
  • A known chromosomal abnormality
  • Unusual birthmarks (cafe au lait spots)
  • Problems with clotting and excessive bleeding
  • Progressive muscle weakness

Cancer genetics

If you and/or your family has:

  • Cancer at a young age (typically less than age 50)
  • Two or more separate cancers (e.g., breast cancer in both breasts, or colon and uterine cancer)
  • Several family members with cancer
  • Rare cancers or tumors (ex. cancer of adrenal glands, eye, kidney, male breast cancer or medullary thyroid cancer)
  • A known cancer gene mutation in family
  • 10 or more polyps in the colon found via colonoscopy

 Adult Genetic Appointments*

If you and/or your family has

  • Coronary artery disease under age 50
  • Connective tissue symptoms (chronic joint pain, abnormal scarring, easy bruising, etc.)
  • Premature ovarian failure
  • A neurological or neurodegenerative disease
  • Aneurysms or blood vessel dilations (aortic aneurysm, etc)
  • Excessive bleeding or clotting
  • Early-onset or progressive hearing loss
  • A progressive eye disorder

*Note: adult patients may be seen in pediatric or cancer genetics clinics.  Call the clinic to ask.

What is a Genetic Counselor?

Genetic counselors are health professionals with specialized graduate degrees and training.  They work as members of a health care team, providing information and support to families who have members with genetic disorders, and families with increased risk for inherited conditions.

What is a Medical Geneticist?

Medical geneticists, also known as clinical geneticists, are physicians who complete a residency in medical genetics.  Medical geneticists diagnose, manage and treat patients with genetic diseases. They  evaluate individual and family medical histories, do physical examinations, determine appropriate genetic testing, and interpret clinical and laboratory information.

How do I find a genetics provider near me?

To locate genetics providers in Wisconsin, please visit the American College of Medical Genetics and Genomics (ACMG) or the National Society of Genetic Counselors websites.  These sites maintain searchable directories of genetics clinics and providers across the United States.  The directories contain information from those who have requested to be listed. Although these websites try to maintain up-to-date directories, given this is a rapidly changing field, it is not always possible. This is not a referral service.  Please contact the clinic directly for information on referring a patient.

What should I expect at a genetics appointment?

It sounds complicated. How can I remember all the technical details?

Your genetic provider will have written and online resources to help you understand the information that was discussed at your appointment. You may get a written summary, or a report may be sent to the referring doctor.

If I pursue testing or counseling, should I be concerned about genetic discrimination?

More and more tests are being developed to find DNA differences that affect our health.  There are federal and state laws and policies regarding the collection and use of genetic information.  To learn more, please visit the Policy and Law page.