CHRC News

Vol. 3, No. 1, October 2000













CHRC Annual Report

Kate Kelly, CHRC Project Manager, 
submitted the CHRC's Annual Report for 
FY00 to the Massachusetts Board of Library 
Commissioners.   In it, she reported the 
following statistics:

Treadwell Library received a grand total of 
532 queries from 245 libraries. Public 
libraries accounted for 77% of queries and 
special libraries for 12% of queries.  The 
remainder came from academic, school and 
law libraries, and regional library offices. 

The Southeast and Metrowest Regions 
together accounted for close to half the 
queries, while the rest of the regions 
accounted for the remainder. 

The most frequently asked queries involved 
delivery of health care (representing a wide 
range of  medical questions about diagnoses 
and drugs); neurologic disorders; requests 
for recommendations (books, journals, 
internet sites), and medical or surgical 
procedures.

We are delighted to assist you and look 
forward to answering more questions.  
Please don't hesitate to be in touch with us.



In the News

Health Reference Interviews

Three excellent web sites discussing 
reference interview strategies for public 
librarians recently came to light.

Introduction to Health 
Reference and Research
http://www.nnlm.nlm.nih.gov/mar/training
/healthreference.html

Prepared by the National Network of 
Libraries of Medicine (NNLM) serving the 
Mid-Atlantic Region, this up-to-date and 
fact-filled site reminds librarians of 
important points:

- The reference interview is 
absolutely necessary to determine 
the level of information needed.
- Consider whether the information
is likely to be available over the 
Internet. If unlikely, consider more 
traditional channels of research 
first. 
- Before you pursue the information 
you find, evaluate it.

This site also offers sample questions and a 
list of general characteristics of consumers 
seeking health information.



Reference Interview 
http://www.sjvls.lib.ca.us/sjvls/corr/med/CC
MED.HTM

A correspondence course prepared by  
California Opportunities for Reference 
Excellence (CORE) at San Joaquin Valley 
[California] Information Service, this site 
gives guidelines for handling medical 
questions in public libraries.   Even though 
the course was prepared before the advent of 
the web, the general tenets hold true. 
Information is given under general headings:  

- Find out what the patron wants. 
- Find information the patron can 
understand.
- Distinguish between giving 
information and giving advice.

The  authors of this course remind librarians 
to:

- Explain why it's important that the 
patron be as specific as possible.
- Be tactful, and use your best 
judgement to obtain as much 
information as possible without 
embarrassing yourself or the 
patron.
- Always remind the patron to 
consult with his or her health care 
provider.
- Find out if the patron is interested 
in consumer-level literature, or 
material written for the health care 
provider or scientist. 
- Remember to differentiate 
between what you can do - 
provide information, and what you 
can't do - diagnose or provide 
medical advice.

- Use extreme caution with 
diagnoses and drugs that sound 
alike but which have entirely 
different meanings.
- Take care when responding to 
medical questions over the 
telephone because it is so easy to 
mis-hear, misinterpret, or 
misunderstand.

Information that will be helpful for you to 
obtain could include, but not necessarily be 
limited, to the following:

1. Ask the patron for an exact spelling of 
the disease or drug, if possible,  
including the part of the body 
affected, if relevant.
2. What is the age of the person who has 
the condition? 
3. Is the information for the patron? Is 
the patron a health professional? 
4. What level is needed? Can the patron 
handle technical material? 

Special Kinds of Questions - 
Medical and Legal
http://www.nlc.state.ne.us/ref/star/chapter9.html

From the Nebraska Library Commission's 
Statewide Training For Accurate Reference 
Reference Manual (STAR Manual), and 
bearing some  resemblance to the Reference 
Interview above, this site provides sample 
caution statements for particular situations 
(telephone; providing drug information; 
what to do when the patron provides 
symptoms and wants a diagnosis to match.) 
A checklist for evaluation of medical web 
sites is included, as well as a sample 
reference intake form and a bibliography.

Rare Diseases and Syndromes

This issue of the CHRC News focuses on a 
few selected sources of information for 
syndromes and rare diseases.  Such written 
information (and often, accompanying 
illustrations) can be upsetting to the librarian 
who retrieves the pages from the fax 
machine and to the patron for whom it is 
intended, but as all the experts above agree, 
such material cannot be "censored."  We try 
to provide information from more than one 
source, if possible, so that if your patron 
hasn't indicated a need for consumer level 
(or technical level) literature, a variety will 
be available.  

It can sometimes seem difficult and even 
intimidating to try and find information 
about rare diseases and syndromes. Once 
investigation begins, it's often startling to 
find how much information is available.  
Even though it may be written more for the 
health care provider or scientist than the 
consumer, there are often non-profit 
organizations and support groups to help  
individuals and their families. A rare or 
"orphan" disease affects fewer than 200,000 
people in the United States. There are more 
than 6,000 rare disorders that, taken 
together, affect approximately 25 million 
Americans. One in every 10 individuals in 
this country has received a diagnosis of a 
rare disease.

NORD
http://www.rarediseases.org/

One of the most important sources of 
information about rare diseases is the 
National Organization for Rare Disorders, 
Inc. NORD is a federation of more than 140 
not-for-profit voluntary health organizations 
serving people with rare disorders and 
disabilities. Thousands of affected 
individuals and their families, as well as 
support groups, health care and human 
service professionals, and advocates for 
people with rare disorders and disabilities, 
rely on NORD's assistance and leadership. 
NORD is dedicated to helping people with 
rare diseases and assisting the organizations 
that serve them. Since its inception in 1983, 
NORD has served as the primary non-
governmental clearinghouse for information 
on rare disorders. NORD also provides 
referrals to additional sources of assistance 
and ongoing support.

Treadwell librarians are more than happy to 
search NORD for you and print out the 
complete reports, which would otherwise 
cost $7.50 each.  Abstracts are available 
free.  NORD is easily searched by typing the 
name of the disease you?re looking for into 
the search box on the home page.

For instance, try searching for Landau 
Kleffner Syndrome, a rare neurological 
disorder of childhood. There is no need to 
use hyphens or apostrophes, and it's a good 
idea to omit the word "syndrome" or 
"disease". NORD allows for truncation: 
enter the first few characters of the word you 
are looking for, followed by an asterisk.  
Synonyms as well as Related Disorders are 
listed, along with a brief abstract, and links 
to web sites of support organizations

Genetic & Rare Disorders
http://www.mgh.harvard.edu/library/chrcind
ex.html

An excellent beginning place is the link to 
Genetic & Rare Disorders, under Diseases, 
Disorders, & General Health Information 
on the Consumer Health Reference Center 
site.  The Massachusetts Department of 
Public Health's Genetics Program  at 
http://www.acadia.net/nergg/state_programs.
html#MA is one of many programs with a 
variety of services available to the public, 
including consumer information and referral, 
health care provider education, congenital 
anomaly surveillance, technical assistance in 
genetics education materials and projects, 
grant preparation and implementation, 
liaison to newborn screening, genetics 
education and outreach to underserved 
populations, and family-centered consumer 
information and referral.

DIRLINE: Directory of 
Information Resources Online 
http://dirline.nlm.nih.gov/

The Directory of Information Resources 
Online  (DIRLINE) is the National Library 
of Medicine's online database containing 
location and descriptive information about a 
wide variety of information resources 
including organizations, research resources, 
projects, and databases concerned with 
health and biomedicine. This information 
may not be readily available in bibliographic 
databases. There are 14,000 records 
including genetic and rare diseases.  Each 
record contains information on publications, 
holdings, and services. DIRLINE is easy to 
search.  For instance, type aneurysm and 
you'll find full contact information for the 
Brain Aneurysm Foundation, Inc., located in 
Boston. 

OMIM  - Online Mendelian 
Inheritance in Man Database
http://www.ncbi.nlm.nih.gov/Omim/
OMIM is a catalog of human genes and 
genetic disorders developed for the web by 
the National Center for Biotechnology 
Information (NCBI). Much of OMIM is 
highly technical and meant for the scientist 
and researcher.  It can be useful as a "last 
resort" for the lay person. Click on ?Search 
the OMIM Database? and type the name of 
the disease.  As with NORD, you can allow 
for truncation with an asterisk.  For instance, 
type scoliosis.  Fifty diseases are listed, 
ranked in relevancy order.  The text includes 
scientific and historic information.  The links 
to Medline citations may be the most useful 
part of OMIM for the general user.

Stanley Jablonski?s Online 
Multiple Congenital Anomaly / 
Mental Retardation (MCA/MR) 
Syndromes?
http://www.nlm.nih.gov/mesh/jablonski/syn
drome_title.html 

This 700-entry database describes congenital 
abnormalities associated with mental 
retardation. Special attention is given to the 
type of information which, because of space  
limitations of the printed form, is often 
completely omitted in the existing reference 
sources. Searching can be carried out in a 
variety of ways: in all fields of the 
document; by OMIM number; by a major 
characteristic of the syndrome, or by 
?Personalia? (the scientist or physician who 
made the original discovery).  For instance, 
choose Personalia and type Angelman.  His 
first name and nationality are listed, along 
with a summary of the syndrome which 
bears his name, a genetic disorder with many 
neurologic components.  Click on the name 
of the syndrome to find complete 
information, including links to Medline 
subject headings; links to the entry in the 
OMIM database; major features of the 
syndrome, historical references, and a 
Medline bibliography.

Office of Rare Diseases (ORD)
http://rarediseases.info.nih.gov/ord/

The ORD's web site covers 6000 rare 
diseases, including current research, 
publications from scientific and medical 
journals, completed research, ongoing 
studies, and patient support groups.  ORD, 
which is a branch of the National Institutes 
of Health (NIH), also provides links to 
many clinical trial databases to find 
information on current or planned rare 
disease studies.   The Patient Travel and 
Lodging section includes direct links to 
organizations supplying special airfare 
flights to research and treatment sites, as 
well as links to hotels, motels and other 
lodging near medical centers.

Print Resources

We often use print sources to supplement 
web-based information.  Sometimes, books 
are our primary source of information.

Birth defects encyclopedia : the 
comprehensive, systematic, illustrated 
reference source for the diagnosis, 
delineation, etiology, biodynamics, 
occurrence, prevention, and treatment of 
human anomalies of clinical relevance / 
Mary Louise Buyse, editor-in-chief.  
Cambridge, Mass.: Blackwell Scientific 
Publications, 1990. This extraordinarily 
comprehensive book runs to almost 2000 
pages with 2000 articles and 1700 black-
and-white photographs, and is arranged in 
alphabetic order, with numerous see 
references as well as complete information 
about the disease, treatment and prevention, 
if applicable,  bibliographic references, and 
OMIM number, if available. In addition to 
familiar diseases, such as sickle cell anemia 
and fetal alcohol syndrome, it also includes 
benign diseases, such as ACHOO 
Syndrome (Autosomal Dominant 
Compelling Helioophthalmic Outburst 
Syndrome.)   It should be noted there is no 
indication of the availability of a newer 
edition.

Another frequently-used reference book, 
The encyclopedia of genetic disorders and 
birth defects / James Wynbrandt and 
Mark D. Ludman. New York: Facts on 
File, 2000,  contains over 1000 entries.  
Definitions range in length from a paragraph 
to three pages, with numerous see 
references. Terms associated with the field 
of genetics, such as recombinant DNA, are 
also defined.  Appendices include congenital 
malformation statistics, birth defect 
statistics, selected web resources, and an 
extensive bibliography.

Dictionary of medical syndromes / edited 
by Sergio I. Magalini and Sabina C. 
Magalini  / Philadelphia: Lippincott-Raven, 
1997, is another source to which we 
frequently refer for brief information. The 
thorough  index includes see references.  An 
important feature of this book is the 
inclusion of "classic citations," references to 
the original articles that described the 
syndrome.

Often, information about a specific 
syndrome will be included in a textbook on 
a broader topic.  For instance, Shadow 
syndromes / John J. Ratey and Catherine 
Johnson. New York: Pantheon Books, 1997 
includes chapters on masked depression, 
hypomanic personality, intermittent rage 
disorder, attention deficit disorder, and 
autism.  Syndromes related to neuro-
muscular disease, such as acid maltase 
deficiency or carnitine deficiency syndrome, 
can be found in such textbooks as Myology 
: basic and clinical / editors, Andrew G. 
Engel, Clara Franzini-Armstrong. New 
York: McGraw-Hill, 1994.  


Trying to find information about genetic and 
rare diseases can be both frustrating and 
rewarding.  Please don't hesitate to contact 
us for assistance.






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CHRC Contact Information

Tel: 1-877-MEDI-REF (1-877-633-4733)
 or    617-726-8600

Fax: 617-726-6784

E-mail:    
    treadwellqanda@partners.org 
or treadwellqanda@partners.org

Consumer Health Reference Center
Treadwell Library 
Bartlett Hall Extension 1 
Massachusetts General Hospital 
Boston, MA 02114. 

http://www.mgh.harvard.edu/library/chrcindex.html

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