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Genetic Counseling

by Brock,Pamela Lyn last modified Jan 20, 2011 01:27 PM

Genetic counseling is a communication process by which personal genetic risk information is translated into practical information for families. Genetic counselors are able to assist individuals and families by helping people to understand information about birth defects or genetic disorders.  This includes explaining patterns of inheritance, recurrence risks, natural history of diseases, and genetic testing options.  They help families cope with emotional issues related to a diagnosis or testing options, and help them make decisions with which they are comfortable, based on their personal, ethical and religious standards. They also connect individuals and families with appropriate resources, such as support groups or specific types of medical clinics, locally and nationally.  Our services include:

Prenatal and Preconception Genetic Counseling

Cancer Genetic Counseling

Other Adult Genetic Counseling Services

 

Prenatal and Preconception Genetics

We provide genetic counseling for individuals or couples to discuss risks associated with advanced maternal age, abnormal screening results, ethnicity, family history, abnormal ultrasound findings, and other conditions or exposures.  We also provide genetic counseling for couples who have a history of infertility, multiple miscarriages, or stillbirths.

Couples/Individuals who can benefit from prenatal genetic counseling include:

    • Women who will be 35 or older at the time of delivery
    • Who have had a previous pregnancy with a birth defect or chromosome abnormality
    • Who have had an abnormal screening or diagnostic test (first or second trimester screen, cystic fibrosis, amniocentesis, etc.)
    • Who have had an abnormal ultrasound finding 
    • Who have a family history of known genetic conditions or birth defects
    •  Who have had three or more miscarriages
    • Who are concerned about drug, medication, or chemical exposures prior to or during pregnancy
    • Who are of Ashkenazi Jewish ancestry

 What to expect in a prenatal genetic counseling session:

    • Discussion of the reason for your referral, including an explanation of your specific risks
    •  A detailed family history including information about relatives with learning problems, mental retardation, birth defects and recurrent miscarriages, as well as family’s ethnic background
    • A detailed pregnancy and medical history
    • Discussion of the causes, inheritance, prognosis and treatment for relevant genetic conditions
    • Explanation and discussion of available testing options, including screening tests (multiple marker screening, ultrasounds) and diagnostic tests (amniocentesis and chorionic villus sampling)
    • Opportunity to choose which, if any, testing options are right for you
    • Availability of a geneticist (medical doctor who specializes in genetic conditions)

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Cancer Genetic Counseling  

We provide cancer risk assessment and genetic counseling to individuals or families with concern regarding inherited predisposition to cancer.  When appropriate, we coordinate genetic testing, aid in the interpretation of result, and make subsequent risk management recommendations.

 Individuals who can benefit from cancer genetic counseling include those who:

    •  Were diagnosed with a rare or unusual cancer
    • Were diagnosed with cancer at a young age
    • Have a multiple primary cancers
    • Have a strong family history of certain cancers (breast/ovarian, colon/uterine, ect.)
    • Have Ashkenazi Jewish ancestry and have had cancer

What to expect in a cancer genetic counseling sessions:

    • Discussion of the reason for your referral, include an explanation of your specific risks
    • Discussion of the genetics of cancer and the newest advances in cancer genetics
    • Extended discussion of your medical and family history (type of cancer, age of diagnosis, ect.)
    • Individual cancer risk assessment
    • The risk, benefits, limitations and possible impact of genetic testing on you and your family
    • The opportunity to decide if genetic testing is right for you
    • Follow-up discussion of your test results (if you decide to proceed with testing)
    • Availability of a geneticist (medical doctor who specializes in genetic conditions)

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Other Adult Genetic Counseling Services

Other individuals that can benefit from genetics services include those with:

    • A personal or family history of a neurological or movement disorder, such as Huntington’s Disease
    • A personal or family history of a blood clotting disorder/ thrombophilia
    • A personal or family history of other genetic diagnoses, such as hemochromatosis, Polycystic Kidney Disease, etc.
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