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Genetics & Genomics

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What is genetics and genomics?

Genetics studies how individual genes or groups of genes are involved in health and disease. Understanding genetic factors and genetic disorders is important in learning more about promoting health and preventing disease. Some genetic changes have been associated with an increased risk of having a child with a birth defect or developmental disability or developing diseases such as cancer or heart disease. Genetics also can help us understand how medical conditions happen.

What is genetic counseling?
Genetic counseling is the process of helping individuals understand and adapt to the medical, psychological and familial implications of genetic contributions to disease in order to help them make informed decisions about their health care. Based on your information collected about your personal and family health histories, the genetic counselor can help you decide whether a genetic test might be right for you or your relative.

Why might I be referred to genetic counseling?
There are many reasons why you may want to or be referred to see a genetic counselor. But, most commonly people seek genetic counseling during four phases of their life. 

  • Planning for Pregnancy: Genetic counseling before your become pregnant can address concerns about factors that might affect your ability to become pregnant or may affect your baby during infancy or childhood.
    • Genetic conditions that run in your family or partner’s family
    • History of infertility or multiple miscarriages
    • Previous pregnancy or child affected by a birth defect or genetic condition
  • During Pregnancy: Genetic counseling while you’re pregnant can address certain tests that may be done during your pregnancy, any detected problems or conditions that might affect your baby.
    • History of infertility or multiple miscarriages
    • Previous pregnancy or child affected by a birth defect or genetic condition
    • Abnormal test results, such as blood test, ultrasound, Chorionic Villus Sampling (CVS) or amniocentesis
    • Maternal infections, such as Cytomegalovirus (CMV), and other exposures like medicines, chemicals and x-rays
    • Genetic screening that is recommended for all pregnant women, which includes cystic fibrosis, sickle cell disease and any conditions that run in you or your partner’s family. 
  • Caring for Children: Genetic counseling can address concerns if your child is showing signs and symptoms of a disorder that might be genetic.
    • Abnormal newborn screening results
    • Birth defects
    • Intellectual disability or developmental disabilities
    • Autism spectrum disorders
    • Vision or hearing problems 
  • Managing your Health: Genetic counseling for adults is often done in specialty areas like cardiovascular, psychiatric and cancer care, where it helps inform medication choices, cancer surveillance, and lifestyle modifications for prevention or management of disease.
    • Hereditary breast and ovarian cancer (HBOC) syndrome
    • Lynch syndrome (hereditary colorectal and other cancers)
    • Familial hypercholesterolemia
    • Muscular dystrophy and other muscle diseases
    • Inherited movement disorders such as Huntington’s disease
    • Inherited blood disorders such as sickle cell disease 

What can genetic counselors do?

  • Assess the risk of having a child or other family member with a genetic disorder
  • Assess the risk of having an inherited disease that affects your health later in life
  • Make recommendations for genetic testing, such as which genetic tests may be right for you and what those tests may or may not tell
  • Explain possible scenarios and outcomes and help you make informed decisions 

What happens in a genetic counseling session?

  • A complete family history is assessed.  
  • Discussion of what genetic testing may be appropriate for you to consider, including risks, benefits, limitations, and utility of genetic testing, as well as implications of possible genetic testing results 
  • Psychosocial support, resources, and advocacy 

Does genetic counseling mean that I will have to have genetic testing done?

  • No.  The purpose of genetic counseling is to provide you with a more thorough assessment of you and/or your family’s risk of disease or genetic condition, possible genetic testing options, what can be done to prevent/manage a disorder or disease, and to empower you to make your own informed decisions about your healthcare.
  • Following genetic counseling, you may choose to have genetic testing. After testing, your genetic counselor can help you better understand your test results and treatment options. 

Benefits of genetic testing

  • Appropriate recommendations for genetic testing and diagnosis of a genetic condition
  • Increased knowledge for oneself and for family members about their risks for certain diseases or genetic conditions, as well as insight as to why the disease or condition may have occurred. 
  • The opportunity to incorporate personalized and preventive management options.
  • Psychological benefits of decreased anxiety and uncertainty. 

How to prepare for your appointment

Genetic counseling consults at Logan Health are currently a complimentary service, funded by nonprofit organizations. Insurance coverage of genetic testing varies depending on your insurance carrier and indication(s) for testing.  Your genetic counselor can discuss options with you and help you determine what the costs would be, if testing is recommended.  Most people can obtain testing at little to no cost if genetic testing is recommended by your physician and genetic counselor. 

If you do not have insurance or have a high deductible, you may be eligible for coverage of genetic testing costs through certain financial assistance programs.  

What should I bring to my genetic counseling appointment?

  • Families who want to participate in genetic counseling are asked to provide a detailed personal and family medical history.  This includes gathering information about both sides of your immediate and extended family—including mother and father. 
  • You may be asked to name conditions within your family and provide information on past and present illnesses, pregnancies, intellectual disabilities, history of cancer and chronic conditions. You may want to prepare a list of questions to discuss with your genetic counselor to make sure we address all concerns. 
  • If any relatives in the family have had genetic testing performed, it is very important you bring a copy of your relative’s results with you to your appointment.  
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