Anndrea Kelly Erika Dye. What is Genetic Counseling? evaluating family history and medical records...

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Anndrea Kelly Erika Dye

Transcript of Anndrea Kelly Erika Dye. What is Genetic Counseling? evaluating family history and medical records...

Anndrea KellyErika Dye

What is Genetic Counseling?• evaluating family

history and medical records

• ordering genetic tests• evaluating the results

of this investigation• helping parents

understand and reach decisions about what to do next

Genetic Testing• Genetic tests are tests

on blood and other tissue to find genetic disorders. Some of the more familiar genetic disorders are:

• Down syndrome• cystic fibrosis• sickle cell disease• Tay-Sachs disease (a

fatal disease affecting the central nervous system)

• spina bifida

Tests AvailableAmniocentesis is a test performed

between weeks 16 and 18 week of a woman's pregnancy. When there's risk of c-section or premature birth,

amniocentesis may also be done to see how far the child's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage.

Chorionic Villus Sampling (CVS) is usually performed between the 10th and 12th weeks of pregnancy.

When Do Doctors Recommend Genetic Testing?

A couple is planning to start a family and one of them or a close relative has an inherited illness.

An individual already has one child with a severe birth defect.

A woman has delivered a stillborn child with physical signs of a genetic illness.

A woman is pregnant and over age 34. A child has medical problems that might be

genetic. A child has medical problems that are

recognized as a specific genetic syndrome.

Who needs Genetic Counseling?• Those who have, or are concerned that they

might have, an inherited disorder or birth defect.

• Women who are pregnant or planning to be after age 34.

• Couples who already have a child with mental retardation, an inherited disorder or a birth defect.

• Women who have had babies who died in infancy or three or more miscarriages.

• People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy.

How Can I Prepare for A Genetic Counseling Session?• At minimum, information on family

medical history should include:• Your relation to each family

member, including whether family members are adopted or half-relatives

• Major health conditions that affect each family member such as cancer, diabetes, or heart disease

• The age of onset for each condition • Age of death (where relevant) • Cause of death • Whether family members had a

child with a blood relative • Try to confirm each health

condition that affects family members.

What not to Expect From A Genetic Counseling Session

• Genetic counseling sessions do not include:

• Any testing or procedures that you do not explicitly approve.

• Prescriptions.

• Specific medical recommendations

• Long-term psychological care.

How To Find a Genetic Counselor• A family can seek genetic

counseling directly or be referred by a physician. Comprehensive genetic services centers are available in the United States, usually located within large medical centers or teaching hospitals. Smaller areas may be served by satellite clinics.

Providers of Genetic Counseling Individuals who have

followed a specific educational curriculum and who are certified genetic counselors (CGCs)

Doctors or nurses with special training in the subject

Career Opportunities• Clinical• Commercial• Diagnostic

Laboratories • Education and

Public Policy• Research – working

as a study coordinator for research projects involved in genetics

How can I become a genetic counselor?

• Genetic counselors hold a Master's degree from one of over 30 accredited U.S. graduate programs

• International training programs are also available.

• Certification is obtained through successful completion of documented clinical experience and the American Board of Genetic Counseling's examination.

Salary

$58,184

Bibliography• http://kidshealth.org/

parent/pregnancy_newborn/medical_problems/genetic_counseling.html#a_What_Is_Genetic_Counseling_

• http://www.marchofdimes.com/pnhec/4439_15008.asp

• http://www.genetichealth.com/Resources_What_Is_Genetic_Counseling.shtml#Anchor4