Genetics FAQs

Genetics FAQs

  • Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects
  • Anyone who has unanswered questions about diseases, chromosome abnormalities or a birth defect in their family or partner’s family such as:
    • autism
    • Down syndrome or other chromosome problem
    • mental disability (mental retardation)
    • birth difference or defect (examples: cleft lip or palate, spina bifida, anencephaly, heart defect)
    • hearing or vision loss in infancy or childhood
    • blood disorders (examples: hemophilia, thalassemia, sickle cell anemia)
    • muscular dystrophy or neuromuscular disease (examples: Duchenne muscular dystrophy, myotonic dystrophy)
    • any inherited conditions (examples: cystic fibrosis, Huntington’s disease )
  • Anyone who carries a chromosome rearrangement
  • Couples, in which both members are found to carry the same genetic condition that occurs more frequently in specific ethnic groups or have had a “soft marker” or abnormality detected on a prenatal ultrasound
  • Couples who already have a child with a mental handicap, an inherited disorder or a birth defect
  • Couples whose infant has a genetic disease diagnosed by routine newborn screening
  • Women who have had babies who died in infancy
  • People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy (common causes of concern include exposure to radiation, medications, illegal drugs, chemicals or infections)
  • Couples who are first cousins or other close blood relatives

It’s recommended that you discuss any of these situations with your health care provider (obstetrician, family doctor, midwife etc) who may refer you to a genetic counsellor.

A counsellor will record your medical background and family medical history. He or she may then offer to arrange additional appointments for further investigation (e.g. amniocentesis).

Genetic counsellors also help you understand medical information about any risks and explain the role of genetics for these conditions. Often, they can determine the risk of occurrence or recurrence of a condition and the availability of tests for it.

If there are decisions to be made about a pregnancy, the care of a child, having more children, or about the ability of the family to cope with ongoing problems, parents can make more informed choices with the facts in hand.

The counsellor’s role is to provide an unbiased, complete and accurate view of the situation, the nature of the birth defect being investigated, and what — in practical terms — its occurrence would mean for all involved.

If a birth defect is diagnosed, genetic counsellors can provide emotional support during what can be a very difficult time, and help connect a family with support groups for specific genetic conditions.

The concept of genetic defects can be frightening and confusing. Counsellors are trained to help translate and simplify the information, and act as an emotional resource.

The counsellor/client relationship:

A genetic counsellor’s primary concern is the interests of his or her client. Counselling is based on values of care and respect for the client’s autonomy, individuality, welfare, and freedom.

Therefore, genetic counsellors are integral members of the “genetic team” and strive to be patient advocates by:

  • Equally serving all who seek services
  • Respecting clients’ beliefs, cultural traditions, inclinations, circumstances, and feelings
  • Enabling their clients to make informed independent decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences
  • Referring clients to other competent professionals when they are unable to support clients
  • Maintaining confidentiality of any information about clients, unless previously released by the client
  • Avoiding exploitation of their clients for personal advantage, profit, or interest