GN 301 Module 9: Genetic Counseling and Case Study on a Rare Genetic Disorder

What is genetic counseling?

  • Helping people understand and adapt to genetic disease
  • Analyzing family and medical histories
  • Education
  • Risk assessment
  • Counseling to help people reach decisions
  • Psychological support

Responsibilities of genetic counselor

  • Obtaining family, medical, developmental and reproductive history
  • Assessing risk  and assist in determining diagnosis  
  • Providing patient education about the disorder, inheritance pattern, medical care
  • Reviewing options available to patient and their family to promote informed decision making by the patient
  • Facilitating medical and/or genetic testing as desired by patient and family members
  • Assist patients in getting services covered by health insurance
  • Providing referrals to support groups, medical and social service agencies
Non-directive:
  • The genetic counselor shares his/her expertise, knowledge and experiences
  • But the patient and the patient’s family members are responsible for making the decision that they feel is best for their situation.
Three specialties
  1. Prenatal: preconception to birth
  2. Pediatric: birth to adulthood
  3. Cancer: individuals with a personal and family history cancer
  • Screening v Diagnostic Test:

  

  1. Screening tests – provide an estimate of the risk of a particular disorder for an individual
    • First Trimester Screening (ultrasound and protein levels)
    • Maternal Serum Screening (levels of 4 proteins)
    • Cell-free DNA Screening (baby’s DNA in mother’s blood)
    • Ultrasound – morphological appearance
  2. Diagnostic tests – provide specific definitive diagnosis
    • CVS
    • Amniocentesis
Where do Genetic Counselors work?
  • While a lot of genetic counselors work in association with hospitals and clinics in the three clinical areas mentioned earlier, genetic counselors work in a variety of settings, including medical laboratories, public health agencies, as health educators, as public policy consultants, as University faculty members, in private healthcare companies and as science researchers.
What training is required?
  • Bachelor's degree
  • Experience 
  • Shadowing a genetic counselor
  • Risk counseling
  • Application preparation
  • Master’s degree in Genetic Counseling 
  • from an ABGC accredited program
  • Board certification
Compare and contrast the role of public health professionals and geneticists in genetic counseling
  • Public health professionals and geneticists have different roles in genetic counseling, although their work can sometimes overlap.
  • Public health professionals are responsible for preventing and controlling diseases and promoting healthy lifestyles. In the context of genetic counseling, they may work to educate individuals and families about the risks and benefits of genetic testing, provide counseling on how to reduce risk factors for genetic conditions, and advocate for policies that promote access to genetic testing and counseling services.
  • Geneticists, on the other hand, are scientists who specialize in the study of genes and heredity. They may work in clinical settings to diagnose and treat genetic conditions, conduct research on the genetic basis of disease, and provide counseling to patients and families about genetic risks and potential treatments.
  • In genetic counseling, geneticists may provide detailed information about the medical aspects of genetic conditions, including the potential risks and benefits of genetic testing, and help patients and families understand the scientific basis of their condition. Public health professionals, on the other hand, may provide broader counseling on issues related to social, psychological, and ethical implications of genetic testing, as well as helping patients and families navigate access to genetic services and resources.
  • Ultimately, both public health professionals and geneticists play important roles in genetic counseling, bringing different areas of expertise to support individuals and families in making informed decisions about their genetic health.