Welcome to the Patient Guide for Emory Genetics.

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First Visit
Location & Appointments 
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When to See a Genetics Professional

Genetic counseling and consultation is a professional assessment of hereditary risk factors regarding a person's own medical history, family history, or pregnancy/reproductive history. As part of this process, the genetics team will also explain the cause and inheritance of a disorder, available testing, prognosis and management/treatment options. The following are some of the reasons a patient may be referred for genetic counseling and evaluation:

• Preconceptional/Prenatal
• Pediatric
• Adult

Potential Reasons for Preconceptional/Prenatal Genetic Counseling & Evaluation:

• Mother is 35 years or older at delivery
• Mother's serum screening test indicates an increased risk for neural tube defects, Down syndrome, or trisomy 18
• Abnormal prenatal test results or abnormal prenatal ultrasound examination
• History of previous retarded child or family history of mental retardation
• Either parent carries a balanced chromosome abnormality
• Previous child with a neural tube defect or family history of neural tube defects (i.e. anencephaly, spina bifida).
• Previous child with or family history of birth defects
• Either parent affected with a hereditary disorder seen in several generations (i.e. autosomal dominant disorder such as myotonic dystrophy)
• Both parents carriers for an autosomal recessive disorder, diagnosed by the birth of an affected child, (i.e. Cystic fibrosis) or by carrier screening (i.e. sickle cell anemia, Tay-Sachs, cystic fibrosis)
• Mother a carrier or presumed carrier of an X-linked recessive disorder (i.e. hemophilia, Duchenne muscular dystrophy)
• Family history of cancer, particularly at younger ages
• Fetal or parental exposure to toxic or carcinogenic agents such as drugs, chemicals, radiation or infections during critical periods of fetal development
• Previous unexplained stillbirth or two or more previous spontaneous abortions (miscarriages), where there is a suspicion of parental chromosome rearrangements, fetal chromosome abnormalities or potentially dangerous environmental exposure to parents or fetuses
• Preconceptional couples with high risk factors such as advanced age, incest or a close blood relationship
• Extreme parental concern or fear of having a child with a birth defect
• Infertility cases where either parent is suspected of having a chromosomal abnormality
• Mother's illness, such as schizophrenia, depression, seizures, alcoholism, diabetes, thyroid disorder and others in which fetal abnormalities may be associated with the disease or with medications prescribed for the condition.

Potential Reasons for Pediatric Genetic Counseling & Evaluation:

• Child with a birth defect, or suspected birth defect
• Child with a suspected or diagnosed genetic syndrome
• Child with a chromosomal syndrome
• Child with a metabolic disorder
• Child with developmental delays
• Child with a family history of a genetic condition

Potential Reasons for Adult Genetic Counseling & Evaluation:

• Adult with a genetic condition who would like periodic monitoring by a specialist
• Adult with a family history of a genetic condition
• Adult with a strong family history of common adult onset disorders such as heart disease, senility, or diabetes
• Adult with a strong family history of cancer

What to do Before Coming to Genetics

The following steps should be taken before meeting with the genetics team. These steps expedite the process and help assure that all information is received in a timely manner. Patients should begin preparation for the appointment at least three weeks in advance to assure enough time to gather all the information needed.

Prior to the appointment, the patient or patients should:

• Call their insurance company to verify coverage for a genetic consultation and potential laboratory testing. This service is usually covered completely, but may require preauthorization, (particularly HMOs). Medicaid/Medicare is accepted.
• Obtain all medical records on the person/s who is being evaluated and any family members who are relevant to the genetic condition under evaluation. The referring physician should assist in this process.
• Complete all medical forms that are sent from Emory Genetics in advance of the appointment.
• Send all medical records and completed medical forms at least two weeks prior to the appointment to allow physicians and counselors time to adequately review the information. If you are unable to send the information in advance, please bring it with you to the appointment.
• Arrive 20 minutes early to the appointment with your insurance card and all completed medical forms if they haven't been sent in advance.
• Bring a family member or close friend to the appointment for support and to help remember all the extensive information that will be provided.

What to Expect

A genetic evaluation and counseling session at Emory's Medical Genetics Division might be recommended for a variety of reasons (see lists above). In all cases, patients should be referred to the Emory Medical Genetics Division by a primary care or specialty physician.  We ask that the physician and patient provide all available medical records, including the family records, so that we may review them prior to the appointment. We will work with the patient, the family and the referring physician throughout the process.

The genetic counseling session and/or evaluation can last one hour or longer and will vary depending on the nature and complexity of the case. The session may include the following:

• Establishing an understanding of the reasons for referral with the patient, couple or family.
• Documenting all of the patient's genetic conditions and health problems, including a family history of at least 3 generations, based on all available medical records and information. 
• Obtaining a personal medical history of the patient that includes a background of past living environments.
• Conducting a full physical examination and laboratory testing, if necessary to rule-out a genetic diagnosis.
• Providing supportive counseling and information about support groups and families who share a similar experience.
• Explaining the diagnosis and complex issues surrounding a genetic disorder including the risks of recurrence, the prognosis, the management of the condition and treatment options.

For metabolic disorders:

• Meeting with a genetic nutritionist team for disease management.

For pre-conceptional and prenatal counseling:

• Obtaining the mother and father's reproductive histories.
• Explaining the genetic causes of birth defects.
• Explaining genetic testing options for the current or future pregnancy, or for others in the family who may be a risk to have a genetic disorder, but have not developed symptoms. Depending on the disorder, options could also include testing that is still under research.

The Division of Medical Genetics will support individuals, couples or families on any decisions they make based on religious and moral values or personal circumstances. We will provide all the information possible to help patients make decisions for themselves, without outside interference or influence.

HealthConnection offers you immediate access to information on Emory services or physicians and will assist you in making an appointment. Call 404-778-7777 or 1-800-75-EMORY (1-800-753-6679) 7:00 a.m. - 7:00 p.m. Monday through Friday

The Emory Medical Genetics Division and Laboratory has a team of professionals specifically designated to answer questions from physicians and their staffs concerning Emory's genetic services.  Our office hours are from 8:30 a.m. to 5:00 p.m., Monday through Friday but we have a Board-Certified M.D. Clinical Geneticist on-call 24 hours/day, 7 days/week, and a Board-Certified Genetic Counselor on-call, Monday through Friday, 8:30 a.m. to 5:00 p.m.  Emory Genetics has the only 24-hour staff readily available for any questions pertaining to laboratory or clinical genetic services.

General inquiries may be directed to:  geneinfo@genetics.emory.edu or at (404) 778-8500; or toll-free 1-800-366-1502.

For directions to our main location at 2165 N. Decatur Rd., Decatur, GA. 30033, go to:  http://www.genetics.emory.edu/directions.php. The Emory Medical Genetics team works at a variety of locations and offices to service the diverse needs of patients and physicians.  Depending on the nature of the appointment, our physicians and counselors can meet with patients at one of many locations throughout Atlanta and the state. Appointment numbers are listed below by type of evaluation and location.

Preconceptional/Prenatal Genetic Counseling

• Atlanta: (404) 778-8549

Pediatric Genetics Evaluation 

• Call Emory Genetics (404) 778-8570, for:
            General genetics clinic
          Metabolic genetics clinic
          Down syndrome clinic
          Fragile-X clinic
          Lysosomal storage disease clinic
  
   
• Call Children's Healthcare of Atlanta at Scottish Rite Hospital (404) 785-2672, for:
          Neurofibromatosis clinic
          Craniofacial clinic
          Muscular dystrophy clinic
  
  
• Satellite Clinics for Pediatric Genetic Evaluations
  Athens            (706) 542-9653
  Columbus        (706) 327-1355
  Dalton             (706) 272-2219, ext. 14
  Gainesville       (770) 535-5884
  Macon             (478) 751-6429
  
  

Adult Genetics  

• Call Emory Genetics at (404) 778-8570 for:
          General genetics clinic
          Metabolic genetics clinic
          Lysosomal storage disease clinic
  
• Cancer Genetic Risk Assessment
  Atlanta, Georgia (404) 778-8549 or 1-800-366-1502
  
• Outreach Cancer Genetic Risk Assessment Clinic
  Macon, Georgia, Central Georgia Breast Care Center (478) 633-2000
  
  

Emory Genetics Laboratory & Genetic Counselor On-Call

(404) 778-8500 or 1-800-366-1502

Learn More About Genetics

The following are links to websites that provide excellent information about the science of genetics or about genetic conditions and diseases. Please click on the address to link directly to one of these sites.

Ask the Geneticist:  www.askthegen.org

Emory's Department of Human Genetics:  www.genetics.emory.edu

Glossary of Genetic Terms: www.genome.gov/glossary.cfm

Genetics Tutorial (the basics of genetics): http://vector.cshl.org/dnaftb/1/concept/index.html

Centers for Disease Control:  www.cdc.gov/genomics/default.htm

The March of Dimes: www.modimes.org

Genetic Disease Support Group Links: www.mostgene.org

Genetic Resource Links from the Department of Human Genetics:  www.genetics.emory.edu/resources.php