WRITING AND STYLE IN GENETICS

J.M. Opitz Emeritus Editor

American Journal of Medical Genetics

Departments of Pediatrics (Medical Genetics), Pathology, Human Genetics, Obstetrics & Gynecology

University of Utah School of Medicine Salt Lake City, Utah

Writing Workshop - ASHG, Montreal October 2011

WRITING AND STYLE IN GENETICS

with apologies to George Louis Leclerc

Comte de Buffon

Discours (Sur le Style) prononcé á lˊ Académie Française le jour de sa réception, Saturday, 25

August 1753: “Ces choses sont hors de lˊ homme, le style est lˊ homme mème”.

BUFFON 1753

…style is the man himself.* “bien écrire, ć est à la fois bien penser, bien sentir et bien rendre.”

Writing well is simultaneously thinking well, reasoning well and expressing well.

*Le style est la physionomie de lˊâme; and Oratio vultus animi

OUTLINE

• Style

• English manuals

• Philosophy, humility

• Ethics

• Technical terminology

• Grammar

• Overwriting, bombast

• Pejorative, hyperbole

• Acknowledgements

ENGLISH • Some 106 words, 64% from the French

• Grammatically less constrained than e.g. German or Latin/Romance languages, it has an organic structure with strong usage convention (q.v. Fowler’s…Modern English Usage), but remarkably susceptible to epidemics of jargon

• Remember ‘that pestilential fellow the critical reader’ who…insists that ‘the words used must…actually yield on scrutiny the desired sense’. Gowers

• “Critical reader”: think first editor of…

• Learn to become your own editor

“INSTRUCTION MANUALS”

• W. Strunk & E.B. White: The elements of style, ed 4, 2000

• A. Plotnik: The elements of editing, 1988

• W. Zinsser: On writing well, 2006

• W. Walsh: The elephants of style, 2004

Dictionaries: • Oxford English Dictionary, 2011

• H.W. Fowler, E. Gowers: A dictionary of modern English usage. 1st ed., 2010

• Webster’s New Collegiate Dictionary, 11th ed., 2008

• The American Heritage Dictionary of the English Language, 5th ed., 2011

• Stedman’s Medical Dictionary, 7th ed., 2011

• Hogben L. The vocabulary of science, 1970

“INSTRUCTION MANUALS”

PHILOSOPHY OF STYLE PLATO:

“Be assured of this, most excellent Crito, that to use words in an improper sense is not only a bad

thing in itself, but it generates a bad habit in the soul”

Socrates in Crito

PHILOSOPHY OF STYLE “Depend upon it, the nation that is muddled in its

prose is muddled in its thoughts. The people

who cannot say what they mean are people who

do not know what they mean. Never were people

so muddled as we of this nation are today. And

why? Because we muddle our minds with words

of imprecise meaning…

Geo Sampson: Seven Essays

ON HUMILITY OF MIND “Start out with the conviction that absolute truth is

hard to reach in matters relating to our fellow

creatures, healthy or diseased, that slips in

observation are inevitable even with the best trained

faculties, that errors in judgment must occur in the

practice of an art which consists largely in balancing

probabilities;…”

Osler: Teacher and Student, 1892

ON HUMILITY OF MIND “…- start, I say with this attitude of mind, and mistakes

will be acknowledged and regretted; but instead of a

slow process of self-deception, with ever increasing

inability to recognize truth, you will draw from your

errors the very lessons which may enable you to

avoid their repetition.

And for the sake of what it brings, this grace of

humility is a precious gift.”

Osler: Teacher and Student, 1892

PURPOSE, 1976

• Advance and disseminate knowledge

• Facilitate and enhance communication, electronically and in print

• Function as magister mundi in all areas of medical genetics at highest scientific, editorial and ethical levels.

The mission of the AJMG was to:

DESIDERATA

• Have something substantial to write about

• Make your point(s) clearly, succinctly, and humbly

• Illustrate effectively; little or no editorializing

• Follow style, format and submission requirements

ETHICS The Way: “This is the way of salvation – to look thoroughly into everything, and see what it really is, alike in matter and in cause; with your whole heart do what is just and say what is true; and one thing more, to find life’s fruition in heaping good on good so close that not a chink is left between”

(Marcus Annius Verus) Later Emperor Marcus Aurelius

ETHICS Q.V. especially chapter 2

on Publication Policies and Practices:

2.2 Responsibility to publish research results

2.3 Data falsification –

filtering and plagiarism

2.4 Redundant publication

2.5 Conflict of interest

2.6 Review process and privileged information

2.7 Withdrawal of manuscripts and duplicate submission

ETHICS

Q.V. also Martin Blume’s review of E.S. Reich’s

account of J.H. Schön’s fraud and the

responses by the CSE and American Physical

Society with report by the APS on ethics

education “…vital to define and promote

ethical behavior by all scientists.”

Nature, 4 June 2009: 645-646

ETHICS

ETHICS – Jan Hendrik Schőn’s Fraud

q.v. Eugenie Samuel Reich: “Plastic fantastic” (2009) q.v. Blume (then editor-in- chief) of APS journals: 6 papers retracted

Partnership of Wiley-Blackwell with the

Committee on Publication Ethics (COPE,

1997), governing all >1300 W–B journals;

q.v. their Best Practice Guidelines on

Publication Ethics: A Publisher’s

Perspective in 2006

ETHICS

ETHICS “Science is not a vehicle for

taking us to heaven but it should include precautions

against going to hell. Without self-conscious awareness of moral goals and self-conscious integration of moral and empirical knowledge, we can only solve practical tasks but cannot guide science to goals that we can define as just and humane.”

Marcus Jacobson, 1993 Foundations of Neuroscience

ETHICS “Separation of ethics from

empirical science has been promoted as a policy aimed at increasing the freedom of

science, when it actually diminishes it. A science

which professes moral principles but which is

really morally unemployed has the worst of both

worlds.”

Marcus Jacobson, 1993 Foundations of Neuroscience

ETHICS IN PRACTICE • Honesty • Respect for precedent

• Respect for patients: They are not subjects, cases, cohorts, or research material, but human beings. Approval by IRB and the parents

• Acknowledge, up front, prior publication and presentation of material

• Make explicit research arrangements between investigators and institutions

• Authorship?

• Commercial support? Conflict of interest?

ETHICS IN PRACTICE

Keep scientific epistemology uncontaminated from that of theology (faith), and if inappropriate, also from that of psychology (feelings).

“We feel…, believe…”, rather: “We think, postulate, infer, deduce, hypothesize…” “Sequencing revealed”, rather: “Showed, demonstrated”

EPISTEMOLOGY

EDITING POLICIES • Confidentiality, evenhandedness

• Conflict of interest (editors, reviewers)

• Slow reviewers ● Sloppy reviewers

• Biased reviewers ● Ignorant reviewers

• Extra effort for meritorious work by younger, foreign, minority colleagues

• Involve a local senior expert and leader

TECHNICAL TERMINOLOGY “Mode of etiologic causation”, what is meant?

• Cause or • Pathogenesis?

“Limb reduction deformity”: Neither a reduction of a prior structure nor deformity when malformation is meant

“Pleiotropism” (Pleiotropie, pleiotropy)

“Height at birth”, “causal regression syndrome”

• Proband; percentile

• Dysplastic ears/hips

• Abnormal morphology, histology, X-rays

• Cardiac surgery

• Murine model

• Chromosome 1q32.1

TECHNICAL TERMINOLOGY

• Abnormal elbow / wrist / knee extension

• During the neonatal period

• Physical exam showed…exhibited

• Delayed milestones

• “Uptake” (vs. ascertainment)

• Described in the literature

TECHNICAL TERMINOLOGY

• Clinically heterogeneous

• Negative results, normal exam

• Siblings (sibship!)

• Dysmorphology, dysmorphic features

• Tools (vs. methods)

• Dandy-Walker continuum

• Distinctive, dysmorphic, coarse facies

• Delineation vs. definition (hence: causally defined)

TECHNICAL TERMINOLOGY

• “Feature” – finding characteristic trait manifestation anomaly defect

• Expanding (or, evolving) the spectrum…

• Evolving spectrum…

• A pair of twins

TECHNICAL TERMINOLOGY

ETYMOLOGY • Calvaria, - ae; extremities

• Data (plural) are

• Uterus – i

• Fetus (fetus plural!), not “feti” (fetuses)

GRAMMAR • Split infinitive; the preposition “for”

• Like (instead of: such as)

• As well as (= also) instead of and

• Reported (on)

• Fallopian, Mendelian

• Marfan’s syndrome

• At 7 months of age

“Dangling participle”: “…mean weight not…different from the cohort of patients with… Rule II of Strunk & White: A participle phrase at the beginning of a sentence must refer to the grammatical subject! Correct: …not different from that of the…

GRAMMAR

PEJORATIVE • Female, male instead of woman, girl, man, boy

• FLK

• “Coarse” face – which phenomenon? • Storage • Lymphedema

• Hypotonia • Premature aging

• Dilantin effect… • Obesity

• Virilization (Cushing)

OVERWRITING, BOMBAST, HYPERBOLE

• The overwhelming majority

• Described in the medical literature

• Very thin strands

• Was on phenobarbital

• Poorly controlled, poor growth

• The bilateral upper extremities

• Published a series of 4 cases

• Menstrual bleeding episode

• Surgical intervention

• Positive carrier status

ACKNOWLEDGEMENTS • The translators of the King James Bible;

• Shakespeare, Francis Bacon, H.L. Mencken, Winston Churchill*, E.B. White…

• And the ever-gracious and long-suffering Feliz Martinez for PowerPoint presentation *Churchill to the Director of Military Intelligence (re invasion of Normandy): “Why must you write intensive here? Intense is the right word. You

should read Fowler’s Modern English Usage on the use of the two words.”