ABGC Certification Examination (CGC) case studies
CGC · Put your knowledge to work in context.
The CGC credential is a genetic counseling certification mark conferred by the American Board of Genetic Counseling (ABGC) after a candidate passes the ABGC certification exam. ABGC states that the CGC mark may only be used by an individual who holds a valid, current CGC credential, conferred after passing the ABGC certification exam, and that use of the ABGC or CGC acronym requires ABGC's prior, express written permission. The CGC case studies are 5 cases and about 2,681 words.
1The Variant of Uncertain Significance in a Family With No Living Affected Relative
A 34-year-old woman (proband) is referred after her mother died of ovarian cancer at 52 and her maternal aunt died of breast cancer at 47. The proband is unaffected.
499 words, about 2 min2A Positive Newborn Screen With an Ambiguous Follow-Up Mandate
A newborn screening result is reported as abnormal for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, with elevated C14:1 acylcarnitine. The infant is 5 days old, exclusively breastfed, and clinically well; the family lives 3 hours from the metabolic center.
605 words, about 3 min3Disclosing a Hereditary Cancer Result That Implicates a Estranged Relative
A 45-year-old man with early-onset colorectal cancer and multiple adenomas undergoes panel testing and is found to carry a pathogenic MLH1 variant, consistent with Lynch syndrome. During counseling he states he is estranged from his only sibling, a 50-year-old sister, and does not want her informed.
433 words, about 2 min4Prenatal Counseling When the Indication Is a Parental Balanced Translocation
A couple presents at 11 weeks' gestation after two first-trimester miscarriages. Karyotyping of the couple reveals the woman carries a balanced reciprocal translocation, 46,XX,t(4;9)(p15;q22).
593 words, about 3 min5A Request for APOE Testing in a Patient With a Family History of Early Dementia
A 52-year-old woman requests APOE genotyping because her father developed Alzheimer disease at 58 and her paternal aunt at 62. She is asymptomatic, has two teenage children, and says she wants to "know her fate" and "plan her life." She has read that APOE4 increases risk and wants to know if she carries two copies.
551 words, about 3 min