MaryForward

Actionable

Also called: actionability, actionable finding

Laboratories find many changes, most of which have no known consequence. A finding is called actionable when there is a real option attached to it — an approved drug, a clinical trial, or a specific monitoring plan. Sorting actionable findings from the rest is a large part of what a genomic report review does.

Related: Biomarker, Variant, Clinical trial

Antimicrobial

Also called: antimicrobials, antibiotic, antibiotics

Antimicrobial is the umbrella word covering antibiotics (for bacteria), antivirals, antifungals, and antiparasitics. Choosing the right one depends on which organism is present, where in the body the infection is, and what else you are taking.

Benign

A benign growth stays where it is and does not invade other tissue. It can still cause problems by pressing on something important and may need removing, but it does not carry the risk of spreading that a malignant growth does.

Related: Malignant

Biomarker

Also called: biomarkers, marker

A biomarker is something that can be measured — a protein, a gene change, a substance in the blood — that tells the care team something useful. In cancer care, biomarkers often indicate whether a particular drug is likely to work for you specifically, which is why biomarker testing frequently happens before a treatment decision is made.

Related: CGP, Targeted therapy, Actionable

CGP

Also called: comprehensive genomic profiling, genomic profiling

Comprehensive Genomic Profiling (CGP) reads many genes in a sample of a tumor at once, looking for specific changes. It matters because some of those changes have drugs designed to act on them — so a CGP report can open up treatment options that would not otherwise be considered. Your oncology team orders it, and an accredited lab produces the report.

Related: NGS, Biomarker, Variant, Actionable

Clinical trial

Also called: clinical trials, trial, trials

Clinical trials are how new treatments are proven. Joining one can give access to an option not yet generally available, with close monitoring, but it may also involve extra visits, tests, or the possibility of receiving the existing standard treatment instead. Each trial has strict rules about who can join.

Contamination

Also called: contaminant, contamination cautions

Very sensitive tests can detect germs that were never causing illness — picked up from skin, equipment, or the environment during collection. This is why an unexpected result on a sensitive test is not automatically acted on. A specialist weighs whether the germ found actually fits your symptoms before treating it.

Related: mNGS, Culture

Contraindication

Also called: contraindications, contraindicated

A contraindication is a factor — another condition, a drug you already take, an allergy, a pregnancy — that makes a treatment risky for you even though it is fine for most people. Flagging contraindications is a safety check that happens before any option is recommended.

Culture

Also called: cultures, blood culture

In a culture, a sample of blood, urine, tissue, or fluid is placed in conditions that encourage any germs present to multiply until there are enough to identify. Cultures are the long-standing standard for diagnosing infection and can also show which antibiotics will work, but they take days and do not always grow anything even when an infection is present.

Related: Organism, mNGS, Antimicrobial

De-identified

Also called: de-identified data, deidentified, anonymized

De-identified data has had names, dates, contact details, and other identifying elements removed, so it can no longer be traced back to you. This is what allows medical information to be used for improving services or research without exposing who any individual is.

Related: PHI, HIPAA

Differential diagnosis

Also called: differentials, diagnostic differentials

Rather than jumping to a single answer, clinicians build a list of the possible explanations for what you are experiencing, then use tests to rule them in or out. Seeing that list is useful — it shows what is being considered and what has already been excluded.

Related: Second opinion

Drug interaction

Also called: drug interactions, interactions

Two drugs taken together can strengthen, weaken, or alter each other's effects. This is why a complete list of everything you take — including supplements and over-the-counter medicines — genuinely matters when options are being weighed.

Related: Contraindication

Eligibility criteria

Also called: eligibility, inclusion criteria, exclusion criteria

Every clinical trial sets conditions — diagnosis, stage, prior treatments, lab values, other health conditions — that determine eligibility. They exist for safety and to keep results interpretable. Small details can decide eligibility, so it is worth having someone check the criteria against your actual records.

Related: Clinical trial

Evidence

Also called: evidence-based, level of evidence

Not all evidence is equal: a large randomized trial supports a conclusion far more firmly than a single case report. Good decision support says not only what the research suggests but how confident that suggestion is, so you can tell a settled question from an open one.

Guidelines

Also called: NCCN, ESMO, IDSA, Sanford Guide, clinical guidelines

Organizations such as NCCN and ESMO in cancer care, and IDSA in infectious disease, convene specialists to review the evidence and publish recommended approaches. Guidelines are updated regularly and are the reference point clinicians work from, though they still have to be adapted to each person's circumstances.

HIPAA

The Health Insurance Portability and Accountability Act sets national standards for keeping medical information private and secure, and gives you rights over your own records — including the right to see them and to know who else has. Organizations handling your health information are legally bound by it.

Related: PHI, De-identified

Informed consent

Also called: consent

Informed consent means more than a signature: it means the purpose, the risks, the alternatives, and your right to decline were all explained first, and you had the chance to ask questions. Consent given without that explanation is not truly informed, which is why these documents spell things out at length.

Related: PHI, Second opinion

Malignant

A malignant growth is cancer: it can invade the tissue around it and travel to other parts of the body. This is the distinction that separates it from a benign growth, and it is the reason malignant findings prompt urgent treatment planning.

Related: Benign, Metastasis

mcfDNA

Also called: microbial cell-free DNA

Microbial cell-free DNA (mcfDNA) is genetic material released by bacteria, viruses, or fungi as they break down in the body. Because these fragments circulate in the bloodstream, a single blood draw can sometimes reveal an infection hiding somewhere hard to reach, without needing a biopsy of the affected area.

Related: mNGS, Organism

Metastasis

Also called: metastatic, metastases, mets

Metastasis is when cancer cells travel from the original tumor and start growing somewhere else, such as the liver, lungs, or bones. Treatment for metastatic disease usually focuses on medicines that travel through the whole body rather than on surgery or radiation to one spot.

Related: Staging, Systemic therapy

mNGS

Also called: metagenomic sequencing, metagenomic next-generation sequencing

Metagenomic Next-Generation Sequencing (mNGS) searches a blood sample for fragments of DNA shed by bacteria, viruses, fungi, and parasites. It can sometimes name an infection when ordinary cultures come back negative. Because it is very sensitive, it can also pick up harmless germs, so results always need a specialist to interpret them in context.

Related: mcfDNA, Culture, Organism, Contamination

NGS

Also called: next-generation sequencing, next generation sequencing

Next-Generation Sequencing (NGS) is a way of reading DNA very quickly, checking thousands of genes in a single run instead of one at a time. It is used to look for changes in a tumor's DNA, or to identify a germ causing an infection. The result comes back as a written report from the laboratory, not as raw data you need to interpret yourself.

Related: CGP, mNGS, Variant

Off-label

A drug approved for one disease is sometimes used for another when evidence suggests it will help. This is legal and common, but it can affect insurance coverage, and the supporting evidence is often thinner than for the drug's original approved use — worth asking about explicitly.

Related: Standard of care, Evidence

Organism

Also called: organisms, pathogen, pathogens

Naming the exact organism matters because treatment differs completely between them: antibiotics work on bacteria but do nothing for a virus. Much of infectious disease diagnosis is the work of identifying precisely which organism is responsible.

Related: Culture, mNGS, Antimicrobial

Peer-reviewed

Also called: peer review, peer-reviewed literature

Before a study appears in a reputable journal, other specialists in the field examine the methods and conclusions and can demand changes or reject it. Peer review is not a guarantee of correctness, but it filters out a great deal of weak work, which is why it is a minimum bar for the sources we use.

Related: Guidelines, Systematic review

PHI

Also called: protected health information, ePHI

Protected Health Information covers medical records tied to identifying details like your name, birth date, or address. United States law places strict limits on who may see it and what they may do with it. When it is stored or sent electronically it is called ePHI.

Related: De-identified, HIPAA

Prognosis

A prognosis is an informed estimate based on what has happened to groups of people with similar findings. It describes averages across many people, not a prediction about you, and it changes as new information arrives or treatment responds.

Related: Staging, Evidence

Randomized controlled trial

Also called: RCT, randomized trial

Assigning people at random to receive one treatment or another means the groups are alike in every respect except the treatment itself, so any difference in outcome can be credited to the treatment. This design is considered among the most reliable ways to establish that something actually works.

Rare disease

Also called: rare diseases, orphan disease

In the United States a disease is called rare when it affects fewer than 200,000 people. Rare conditions are often diagnosed late and have less research behind them, which is exactly why gathering scattered evidence and getting specialist input tends to matter more than usual.

Related: Second opinion, Clinical trial

Resistance mutation

Also called: resistance, resistant

Sometimes a treatment works at first and then stops. Often the reason is that the cancer cells or bacteria have developed a change that lets them survive that specific drug. Identifying which change occurred can point directly to a different drug that still works.

Related: Variant, Targeted therapy

Second opinion

A second opinion gives another qualified specialist the chance to look at the same records and say whether they agree with the diagnosis and plan, or would consider something different. Asking for one is routine and expected in complex cases — it is not a criticism of your existing team.

Related: Differential diagnosis

Staging

Also called: stage, stages

Staging summarizes the size of a tumor and whether it has reached lymph nodes or other organs, usually as a number from I to IV. It matters because treatment guidelines, and the questions worth asking, differ a great deal between stages. Staging can change as new scans or test results come in.

Related: Metastasis, Guidelines

Standard of care

Standard of care is the well-established approach supported by the strongest evidence for a given condition and stage. It is the baseline any other option gets compared against, and knowing what it is for your case is a reasonable thing to ask your team directly.

Related: Guidelines, Clinical trial

Systematic review

Also called: meta-analysis, systematic reviews

Rather than reporting one experiment, a systematic review searches for every relevant study, assesses their quality, and combines the findings. Because it reflects the whole body of evidence instead of a single result, it generally carries more weight than any individual study.

Systemic therapy

Also called: systemic treatment

Systemic therapies — including chemotherapy, targeted drugs, and immunotherapy — circulate in the bloodstream and can reach disease anywhere. They are the usual approach when a disease has spread beyond a single site that surgery or radiation could address.

Related: Metastasis, Targeted therapy

Targeted therapy

Also called: targeted therapies, targeted treatment

Unlike treatments that affect all fast-growing cells, a targeted therapy is built to interfere with one particular molecule or gene change. This is why testing often comes first: the drug only helps if your disease actually carries the change it was designed for.

Related: Biomarker, Actionable, Variant

Variant

Also called: variants, mutation, mutations

A variant (often called a mutation) is a difference in the DNA sequence of a gene. Some variants cause disease, some make a tumor vulnerable to a particular drug, and many have no known effect at all. A lab report will usually say which category a given variant falls into, because that distinction drives what happens next.

Plain-language glossary