Genomic Messages: How the Evolving Science of Genetics Affects Our Health, Families, and Future - George Annas, Sherman Elias (2015)


ACMG: American College of Medical Genetics and Genomics.

Amniocentesis: A prenatal test in which a small amount of amniotic fluid is removed from the amniotic sac surrounding the fetus and cells within the fluid are tested for genomic abnormalities.

Alleles: Varieties or alternatives of a single gene. An individual inherits two alleles from each parent and which alleles a person inherits may affect the physical traits they express.

ART: Assisted Reproduction Technology.

Carrier: An individual who is heterozygous for a given trait that only affects individuals who are homozygous. Thus, although carriers do not display any physical characteristics of the trait, they can pass on the trait to their offspring.

Chromosomes: The packaged structure of DNA within the nucleus of a cell. Humans have 46 chromosomes.

Clone: A genetic duplicate. This may refer to an organism or a DNA fragment.

CMA (chromosomal microarray): A high-volume, automated analysis used to identify duplicated or deleted copies of genetic data (CNVs). The analysis compares a patient’s DNA to a reference genome using small DNA probes.

CNVs (copy number variants): Gains, losses, and inversions of stretches of DNA larger than 1,000 base pairs. Most CNVs are normal and contribute to human variation.

CVS (chorionic villus sampling): A prenatal test in which cells from the placenta of a fetus are removed and tested for genomic abnormalities.

Deletion: The loss of genetic material.

DNA (deoxyribose nucleic acid): A large organic molecule made up of four bases (Adenine, Guanine, Cytosine, and Thymine) that encode all the basic information necessary for life. DNA is double stranded, resulting in base pairs between strands, and has a helical structure.

Dominant: An allele that masks the presence of a recessive allele and is expressed when the individual has one (heterozygous dominant) or two (homozygous dominant) copies of a dominant allele.

EHR: Electronic Health Records (sometimes termed electronic medical records).

ENCODE: (n) Encyclopedia Of DNA Elements, a project to determine all the functional elements in the human genome sequence.

Encode: (v) To convert from one system of communication (DNA base pairs) to another system of communication (amino acids in a protein chain).

Epigenetics: “On top of genetics”, the study of chemical and structural changes to the genome.

Epigenome: All chemical and structural changes to the genome.

Eugenics: The belief and practice of improving the genetic quality of the human species, generally through the selective reproduction of individuals with favorable traits and the (generally involuntary) diminished reproduction of individuals with less favorable traits.

EWAS (epigenome-wide association studies): Studies in which the epigenomes of ill and healthy individuals are compared to identify genetic modifications associated with disease. Current research specifically focuses on the addition of a carbon-hydrogen molecule (methyl) to DNA.

Exome: The part of the genome comprised of protein coding genes. This constitutes less than 2 percent of the total genome.

False negative: When a test result is negative, but the patient does have the condition being tested for.

False positive: When a test result is positive, but the patient does not actually have the condition being tested for.

FDA: U.S. Food and Drug Administration.

Gene: A segment of DNA base pairs that contain the information necessary to encode a protein (or polypeptide chain).

Genetic counseling: A practice in which patients and family members receive counseling regarding the nature and consequences of a genetic disorder.

Genetics: The study of the actions and structure of genes, as well as the patterns of inheritance through which genes are passed on.

Genism: The belief that fundamental human characteristics are determined by genes.

Genome: All genetic components of a single individual or species.

Genotype: The genetic makeup of an individual.

GWAS (genome-wide association studies): Studies in which the genomes of ill and healthy people are compared to identify genetic variations associated with disease.

Heterozygous: When an individual inherits two different alleles of a given gene from their biological mother and father.

Homozygous: When an individual inherits the same alleles of a given gene from their biological mother and father.

Human Genome Project: An international scientific project to determine the chemical makeup of human DNA, including all human genes and their functions.

ICSI: Intra-cytoplasmic sperm injection.

IVF: In vitro fertilization.

Mendelian inheritance: A pattern of inheritance characteristic of organisms that reproduce sexually. Of greatest importance is Mendel’s Law of Dominance, which states that some alleles are dominant while others are recessive.

Microbiome: The ecological community of microorganisms that share our body space.

Mutation: A change in genetic material such that a new variation is produced. Mutations can occur through insertions of new base pairs, deletions of base pairs, inversions of stretches of DNA, etc.

NIH: U.S. National Institutes of Health.

Oncogene: Genes that increase the likelihood that a cell will become cancerous due to uncontrolled growth.

Pedigree: A diagram of heredity that traces a trait or disease of interest through many generations.

Personalized medicine: A model that advocates medical care customized to an individual patient’s unique cellular and genetic makeup.

Phenotype: The physical makeup of an individual as determined by their genotype.

Protein: A large organic molecule encoded by DNA that interacts with enzymes, performs important cellular metabolic functions, and supports cells structurally.

Positive predictive value: The probability that a patient with a positive test result does in fact have the disease being tested for. This is calculated by dividing the number of true positive test results by the total number of positive tests results.

Racism: The belief that fundamental human characteristics are determined by race.

Recessive: An allele that is masked by the presence of a dominant allele and only manifests in individuals with two recessive alleles (homozygous recessive).

Sensitivity: The probability of a positive test among patients with the disease.

Singularity: The hypothetical moment when artificial intelligence is so advanced that humanity will undergo a dramatic and irrevocable change.

SNPs (single nucleotide polymorphisms): A single base pair variation in a DNA sequence. For example, a fragment of DNA from one individual may read AACGTCG, while a fragment of DNA from another individual may read AACGCCG.

Specificity: The probability of a negative test among patients without the disease.

Tumor suppressor gene: Genes that normally restrict the development of tumorous cells. If the tumor suppressor genes of a cell stop functioning, the cell is more likely to become cancerous.

Variants of uncertain significance (VUS): A variant identified in an individual’s genome that cannot be classified as benign or pathogenic due to a lack of information about that particular variant.

WES: Whole-exome sequencing.

WGS: Whole-genome sequencing.