Language has Power

Language choice in medical settings is of great significance

Poor language choice has negative consequences

• Impedes understanding
• Can be misleading
• Can be perceived as inappropriate
• Can be perceived as discriminatory
• Can be perceived as offensive
• Can be incorrect
 Intended Use of Language

• To communicate
• To educate
• To inform
• For data collection
• To facilitate decision making
• To produce understanding
• To communicate risk
• To counsel
• To solicit [patient recruitment to trials]
Issues in the use of language in genetics

• Stigmatizing • Value laden

• Deterministic • Transmits values
• Harsh • Multiple Meanings
• Negative • Implications
• Problematic • Connotations
• Applies labels • Multiple
derivations
 What do you think of these words in
the context of genetic counselling?
• Abnormality
• Genetic disease
Avoiding negative connotations
• Mental retardation Avoiding labels

Disorder is preferred over disease

• Spastic
Inheritance over transferance
• Retarded
• Handicapped
person
 What do you think of these words in
the context of genetic counselling?

• Positive diagnosis
Avoid confusion
• Positive for disease

• Pedigree vs. family Avoid technical terms when

tree/genealogy common terms are available
and do not alter meaning

• Failure to comply
Avoid value-laden terms implying judgment
• Reject
vs. Decline
 What do you think of these words in
the context of genetic counselling?
• Eradication
• Defect Issues were reported for words
with negative connotations
• Immutable
• Morbidity Note comments about this
• Severity word:
‘Condition’
• Disease
• Inherently flawed
• Mutation
• Defective
• Mutant
• Burden
• Cost-benefit; cost-effective
Words in bold font were considered offensive by a majority of respondents
Words in bold font were considered offensive by a majority of respondents

Note: in the case of the unborn – the absence of a majority; note the different
terms and their different meaning – scientific stage of development, baby and
state of the mother [pregnancy]
What do you think of a study
on this topic being referred to
as
SLANG?

Definition of Slang: “a type of language that consists of

words and phrases that are regarded as very informal, are
more common in speech than writing, and are typically
restricted to a particular context or group of people.”

Appropriate/Not appropriate?
 Why is sensitive language important in the
context of medical genetics and the clinic?

• Risk • Autonomy
• Perceptions • Choice
• Understanding • Information processing
• Consumers

• Anxiety • Culture
• Guilt
• Labels
• Images
• Connotations
 Choice of terminology is important
Define these terms
• Person-first language • Nondirective language

Use of neutral terms

A person with…..

• Technical Language • Culture

Eg., Allele Context is important

What tensions were highlighted in this
discussion of sensitive language
• Scientific accuracy and precision in language

• Context, comprehension
This week’s reading

What diagnostic issues arise with use of next

generation sequencing technology
in the clinic?

• What is the issue that this paper addresses?

“New Genetics”
– rapid, affordable and high resolution
consumer & direct to consumer

• Why is this an issue?

 How do consent forms handle
unsolicited and secondary findings?

UF unsolicited findings SF secondary findings

• Define • Define
• Distinguish • Distinguish

• Potentially disease-causing • Disease causing

• Unrelated to rationale for • Extraneous to clinical
sequencing question
• Not specifically searched for • Actively searched for

Next generation sequencing and other rapid and affordable genetic tests that
operate direct to consumer
The Issue: Findings not requested or expected arise
 Issues that arise in reporting
UF and SF
• Ethical duty to report
• Contract fidelity – not in the contract to report
• Feasibility – ability to report
• Desirability
• Responsibility
• Penetrance
• Treatment/therapy availability
• Asymptomatic and no family history
• Ability to consent
• Ability to select what is reported
 What is informed consent?

• Provide a definition of informed consent

• Name and describe a challenge in obtaining

informed consent
– Post one challenge [not posted by another student
in the course]