Genetic diseases new naming proposed

[Guest guest]

(This may be of interest, since I am sure many of us have had a hard

time with 'Tooth's name in CMT!) ~ G

From the British Medical Journal 2003;326:416 ( 22 February )

New method for naming genetic diseases is proposed

by Dobson Abergavenny

A new way of naming genetic diseases has been put forward in a report

that highlights concerns that names can be wrongly applied, historically

inaccurate, or insensitive to patients.

Eponyms, in particular, are a problem, because it is not always clear

whose name is the most appropriate. Names of women researchers are

rarely used. Also, nomenclature is at the mercy of researchers with a

passion for acronyms, the authors say.

No such confusion besets the naming of genes, say the authors, because

the Human Gene

Nomenclature Committee approves and implements human gene names and

symbols.

" Medical genetic conditions are often known by a confusing array of

synonyms, acronyms, and eponyms that frequently distort historical

accuracy. Expert working

groups offer recommendations on preferred names, but no formal

international nomenclature committee exists for this purpose, " says the

report (Nature Reviews Genetics 2003;4:152-6).

The authors, from the Royal Devon and Exeter Hospital, say that while

many eponyms, such as Huntington, are indisputably merited, the

incorrect use of eponyms can

result in misrepresentation of both medicine and medical history.

" As with Huntington, it is difficult to imagine Duchenne muscular

dystrophy being known by any other name, because the condition has been

so important in the history of

medical genetics. Without wishing to detract from the achievements of

Guillaume Duchenne, the disease was described clearly by the English

physician Meryon in 1851 some 17 years before the classic work

that led to Duchenne’s association with the dystrophy, " they say.

" Eponyms tend to be taken for granted as terms in their own right, and

the history of the individuals concerned is rarely considered, let alone

the merit of their eponymous

claim to fame. As well as the misapplied eponyms, there are those that

are simply contrived or false but that have, nevertheless, been accepted

into common usage. "

The authors say that one gap in the present system is the lack of any

group or committee with the remit to investigate historical

inaccuracies, including miscarriages of eponymous justice— " of which

there are many. "

Such a group, they add, " could lead to enhanced recognition for some of

our colleagues and forebears, but also carries the controversial risk of

diminishing the reputation of others. "

The authors cite an online database that lists 6028 eponyms in medicine

that are linked to 2451 individuals, of whom only 71 are women. " Even

allowing for the

relatively late acceptance of women as equals in medicine, this

imbalance is an embarrassing example of sexual discrimination, " they

say.

Then there are the acronyms. They can be useful but can be taken too

far, a tendency called acronymophilia. Some acronyms have negative

connotations, such as CRASH

(corpus callosum hypoplasia retardation adducted thumbs spastic

paraparesis

hydrocephalus).

" The human genetics community should consider whether there is room for

improvement in how we name medical conditions, especially with respect

to the pioneering forbears who led the way, " say the authors. They argue

that an accurate and agreed " official " name for a syndrome or condition

should be used—the " orthonym, " meaning the direct or plain name.