VaAGC

Virginia Association of Genetic Counselors

Genetic Counseling Myths and Facts

MYTH: If I see a genetic counselor, I will have to undergo extensive genetic testing.

FACT: Genetic counselors meet with patients who desire to have a risk assessment regarding a particular inheritable disease or disorder. After taking a thorough family history and evaluating your situation, a genetic counselor will decide whether or not to recommend genetic testing. However, even if genetic testing is recommended, no one can force you to undergo genetic testing without your consent.

MYTH: Genetic testing is never covered by insurance, causing me to pay a lot of out of pocket expenses.

FACT: While genetic testing can be very expensive, many insurance providers will cover some or all of the cost once certain criteria is met.  Criteria vary from insurer to insurer, but common eligibility requirements stipulate that you have symptoms of a condition that is possibly genetic, or that you have a certain number of family members with the same medical condition(s), or there is already a known genetic mutation in the family.

MYTH: Genetic counselors will encourage women to have abortions or tell couples that they should not have children.

FACT: Genetic counselors are specifically trained to provide accurate information to help individuals and couples make informed, autonomous decisions about their pregnancies and whether or not have future children. They have a long tradition of “non-directiveness,” meaning that they aim to provide unbiased information and encourage people to make decisions that are right for the individual or family.  In the best circumstance, the genetic counselor will play a supportive role in a couple’s decision-making process--helping the family access information, tests and resources that are needed for the couple to make their own decisions without coercion.  However, we acknowledge that all health care providers need to do a better job of delivering the right balance of information that couples need so that they can make family planning decisions that are not heavily influenced their provider’s own preferences.

MYTH: My parent tested positive for a genetic mutation, but I do not have to worry because the mutation can skip generations.  (My sibling tested positive for a genetic mutation, so I do not need testing because I must have automatically inherited it, too.)

FACT:  There are three main patterns of inheritance: autosomal dominant, autosomal recessive, and X-linked.  To find out your risk for inheriting the family mutation (or passing it on), you first should find out which pattern of inheritance applies.  For a detailed explanation of each pattern of inheritance, click here.

    • Autosomal dominant mutations cannot skip generations.  A parent must be a carrier in order to pass the family mutation on to the next generation.  If a parent is a carrier, then he/she has a 50% chance of passing the family mutation on to each child.  Knowing the first child’s carrier status does not tell us if the next child’s risk to be a carrier is higher or lower.  If we prove through testing that a person is not a carrier, then he/she cannot make sperm or eggs with the family mutation in it.  A non-carrier therefore cannot pass the mutation on to the next generation.  Autosomal dominant conditions can appear to “skip a generation” because some carriers may not develop obvious characteristics of the syndrome or they may not express the disease at all. 
    • Autosomal recessive conditions occur when a child inherits two mutated genes--one mutation from father and one mutation in the same gene from mother.  If a person has only one copy of the gene mutation, then he/she usually does not develop symptoms of that condition, so we call that person a “silent carrier”.  If a baby is born with an autosomal recessive condition, there is a 25% that the next child also will inherit two mutations.  We usually see autosomal recessive conditions in brothers and sisters, but not in the parents or grandparents.  This pattern therefore can appear to be “skipping generations”.  The risk for the condition to occur in the next generation depends upon the chance that both parents are carriers for mutations in the same gene again.  This risk is usually low, but is more likely to happen if the parents are related by blood or if they share the same ethnic/racial ancestry.
    • X-linked conditions are typically passed down to sons through carrier mothers.  If a mother is carrier, there is a 50% chance that she will pass the mutation down to her sons and daughters.  If a son inherits the mutation, we expect him to show symptoms of the X-linked condition.  If a daughter inherits the mutation, she often is “silent carrier”--a mutation carrier who does not show signs of the disease--and may not realize that she is a carrier until she has an affected son of her own.  X-linked conditions appear to “skip generations” when you see a pattern of affected uncles and affected nephews connected by unaffected females.

MYTH: Hereditary breast cancer genes (e.g. BRCA1 and BRCA2) are only passed down from mothers to daughters.

FACT:  Both men and women carry BRCA genes.  When the BRCA genes are working normally, they help repair damaged DNA.  BRCA genes are passed on equally to male and female children and it does not matter if the carrier parent is the father or the mother. If a female inherits a mutated BRCA gene, her risks for breast and ovarian cancer increase greatly.  However, if a man inherits a mutated BRCA gene, his cancer risks only increase slightly because has no ovaries and only has a small amount breast tissue compared to females.  Male BRCA mutation carriers therefore tend to be “silent carriers”--a mutation carrier who does not show signs of the disease.  It is important to remember that men are able to develop breast cancer and their risks of doing so increase if they are carriers of a BRCA mutation.

MYTH: A genetic counselor is another term for genetic engineer who conducts research regarding gene therapy and/or cloning.

FACT: Genetic counseling is a process in which a genetic counselor educates families or individuals about their risk of passing on a genetic predisposition for certain disorders to future generations or of having inherited a disorder themselves. Genetic engineers and other research scientists may be researching gene therapy, which is the highly technical science of altering genes. For example, genetic technologies have recently led to a new treatment for cystic fibrosis using gene therapy. Genetic counselors may discuss gene therapy in specific disorders, but they are not the professionals who conduct research or carry out the process. Genetic counselors are not involved in the process of cloning.

MYTH: Genetic testing will affect my health insurance because the results will be considered a pre-existing condition. 

FACT:  President George W. Bush passed the Genetic Information Nondiscrimination Act (GINA) in 2008.  GINA makes it illegal for health insurance companies to treat genetic test results as a pre-existing condition.  Although GINA provides much needed protections to individuals who are considering genetic testing, genetic discrimination laws do not cover all circumstances.  To learn more about the risks of genetic discrimination, click here.

MYTH: Genetic testing is necessary to diagnose all hereditary conditions.

FACT:  Currently, there is not a genetic test for every known hereditary condition.  Some hereditary conditions can be diagnosed by a physical exam alone, which is often performed by a medical geneticist.  The geneticist checks you for signs and symptoms that are very specific to that hereditary condition.  If a genetic test is available, it can help confirm or rule out a suspected hereditary condition.