Mixed Deck — All ABMGG Topics Flashcards
100 cards from real ABMGG practice questions. Tap to flip, then mark Knew It or Still Learning — missed cards come back until you master them.
Read the first 20 Mixed Deck — All ABMGG Topics flashcards as text
Which ethical principle is most directly applicable to diagnostic procedures?
Answer: Beneficence — acting in the patient's best interest
Beneficence, the principle of acting in the patient's best interest, is fundamental to ethical practice in diagnostic procedures.
What role does documentation play in clinical assessment methods?
Answer: It is a critical legal and clinical requirement
Thorough documentation in clinical assessment methods is both a legal requirement and essential for continuity of patient care.
In pharmacogenomics, which cytochrome P450 enzyme polymorphisms are most commonly assessed to guide drug dosing decisions in clinical genetics?
Answer: CYP2D6 and CYP2C19
CYP2D6 and CYP2C19 metabolize a large proportion of commonly prescribed drugs; variants in these genes cause poor-metabolizer or ultra-rapid-metabolizer phenotypes.
In the context of American Board of Medical Genetics and Genomics, what is the primary goal of patient communication?
Answer: Optimal patient outcomes and safety
The primary goal of patient communication in American Board of Medical Genetics and Genomics is always to achieve optimal patient outcomes while maintaining safety standards.
Which of the following is NOT a requirement for maintaining certification through ABMGG?
Answer: Publishing a peer-reviewed research paper every year
While ABMGG requires CME and knowledge assessments as part of MOC, publishing research papers is not mandatory for maintaining certification.
Which inheritance pattern is characterized by transmission exclusively through the maternal line with variable expressivity among family members?
Answer: Mitochondrial inheritance
Mitochondrial DNA is maternally inherited; all children of an affected mother may be affected but paternal transmission never occurs.
In X-linked dominant inheritance, which statement best describes the pattern of affected individuals?
Answer: Both males and females are affected, but males typically have more severe disease
In X-linked dominant conditions, hemizygous males often have more severe disease (sometimes lethal in utero) while heterozygous females are affected but typically less severely.
A de novo pathogenic variant in a gene causes severe disease in a proband whose parents are unaffected. What is the approximate recurrence risk for future siblings?
Answer: 1–2% due to possible germline mosaicism in a parent
Even when neither parent shows the variant by blood testing, low-level germline mosaicism in a parent can raise sibling recurrence risk to ~1–2%.
Constitutional chromosomal abnormalities differ from somatic (acquired) chromosomal changes primarily in that constitutional changes are:
Answer: Present in every nucleated cell of the body and inherited through the germline
Constitutional chromosomal abnormalities arise during gametogenesis or early embryogenesis and are therefore present in virtually every cell of the body, whereas somatic changes arise post-zygotically in specific tissues.
In the context of American Board of Medical Genetics and Genomics, what is the primary goal of clinical assessment methods?
Answer: Optimal patient outcomes and safety
The primary goal of clinical assessment methods in American Board of Medical Genetics and Genomics is always to achieve optimal patient outcomes while maintaining safety standards.
In cancer cytogenetics, a deletion of 17p13.1 is most associated with loss of function of which tumor suppressor gene?
Answer: TP53
TP53, which encodes the p53 tumor suppressor protein, is located at 17p13.1, and its deletion or mutation is one of the most common alterations across many cancers.
In the context of ABMGG laboratory practice, what is a mosaic variant?
Answer: A variant present in only a subset of an individual's cells
Mosaicism arises when a post-zygotic mutation occurs in a progenitor cell, resulting in two or more genetically distinct cell populations within the same individual.
What is the role of ABMGG in accrediting training programs?
Answer: Accrediting residency and fellowship programs in genetics and genomics
ABMGG oversees the accreditation of residency and fellowship programs in genetics and genomics to ensure the quality of training for future professionals in the field.
Which evidence-based approach is most important when applying patient communication principles?
Answer: Integrating current research with clinical expertise and patient values
Evidence-based practice in ${subj.toLowerCase()} requires integrating current research findings with clinical expertise and individual patient values.
Which chromosomal microarray platform approach is required by ACMG guidelines for the evaluation of individuals with unexplained developmental delay, intellectual disability, autism spectrum disorder, or multiple congenital anomalies?
Answer: Chromosomal microarray analysis (CMA) as a first-tier test
ACMG recommends CMA as the first-tier cytogenetic diagnostic test for individuals with unexplained DD/ID, ASD, or MCA because it detects submicroscopic CNVs missed by conventional karyotyping.
In autosomal recessive disease, consanguinity increases disease risk primarily because it increases the probability of:
Answer: Homozygosity for the same pathogenic allele inherited from a common ancestor
Related parents share segments of their genome identical by descent; when both carry the same recessive allele, offspring have a higher chance of inheriting two copies.
What role does documentation play in patient communication?
Answer: It is a critical legal and clinical requirement
Thorough documentation in patient communication is both a legal requirement and essential for continuity of patient care.
Which subspecialty certification is overseen by ABMGG?
Answer: Laboratory Genetics and Genomics
ABMGG offers certification in several subspecialties, including Laboratory Genetics and Genomics. Pediatric surgery, molecular pathology, and epidemiology fall under other medical boards or fields.
Which concept explains why two siblings with the same pathogenic CFTR genotype can have markedly different disease severity?
Answer: Variable expressivity
Variable expressivity refers to the range of signs and symptoms that can occur in individuals with the same pathogenic genotype, influenced by modifier genes and environment.
Why is continuing medical (CME) important for ABMGG-certified professionals?
Answer: It ensures professionals stay informed about evolving medical practices in genetics
CME helps professionals remain updated on the latest medical and technological advancements in genetics, which is essential for providing high-quality patient care.