How to Find an Expert
Many individuals want to know about healthcare professionals or researchers who
have knowledge of their conditions. When a condition is rare, it can be
difficult to find someone who has seen many cases. Although there is no list of
experts in rare diseases, the guidelines below include several ways to identify
healthcare professionals who have experience with a particular condition.
Potential resources include patient advocacy groups, researchers who have
conducted or are conducting clinical trials, and authors of articles published
in the medical literature.
We are providing these resources to assist you in your search; however,
sometimes it will not be possible to find a healthcare provider who has
extensive experience in a particular rare condition. At the bottom of this fact
sheet, we have provided some suggestions to help you when you are still unable
to locate an expert after researching these resources.
The GARD Information Center provides these resources for informational purposes
only and not as an endorsement of services. You should use your own judgment
when evaluating a healthcare professional. You can find helpful information on
choosing quality health care from the Agency for Healthcare Research
and Quality (AHRQ).
How can I find a:
What if I can’t find an expert?
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How can I find a healthcare professional with experience in a specific
condition?
Several resources may be able to assist in your search for a healthcare
professional with experience in a particular condition:
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Many disease advocacy organizations have medical advisory boards, physician
locator services, or patient networks, all of which may help you find a
healthcare professional who is familiar with a particular condition.
You can search for your condition on the
GARD Web site to see if you can find related disease advocacy
organizations. These would be located in the "Support Groups" tab. If you don’t
find a specific group, search the
Genetic Alliance and the
National Organization for Rare Diseases (NORD) Web sites.
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Published resources provide another way to find a specialist for a particular
condition. Experts are often called upon to contribute to online publications
such as
GeneReviews,
NORD, and Medscape
Reference. Many of these resources list the author’s name and
institution and may provide an e-mail address or phone number.
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You can also search the medical literature to find healthcare professionals or
researchers who have published recent articles or case reports on a particular
condition. You can find relevant articles through
PubMed, a searchable database of biomedical journal articles. Although
not all of the articles are available online for free, most articles listed in
PubMed have a summary/abstract available. In addition, contact information for
one of the authors may be listed. On the Results page, select "Abstract" under
Display Settings to view information about the authors.
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How can I find a
specialty treatment center?
Treatment centers often have healthcare professionals of various specialties
who work together. The resources listed below may help you locate a treatment
center for your condition.
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Disease advocacy organizations often establish Centers of Excellence for their
condition(s). Contact a support organization to determine if they know of a
Center of Excellence.
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The
National Cancer Institute provides information on how to find a doctor
or treatment facility if you have cancer (many cancers are rare).
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The Muscular Dystrophy Association
(MDA) provides medical services for its members through MDA clinics across the
country. These clinics serve people with a range of neuromuscular disorders.
Patients can receive medical care for genetic disorders at a discounted cost
through the MDA clinics. To learn about accessing these services, contact the
MDA toll-free at 1-800-344-4863.
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How can I find a genetics clinic?
Genetics clinics are a source of information for individuals and families with
a genetic condition. To find a genetics clinic, we recommend that you contact
your primary doctor for a referral.
Learn more about genetic consultations.
The following online resources can also help you find a genetics professional in
your community:
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GeneTests offers a searchable directory of U.S. and international
genetics and prenatal diagnosis clinics.
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The
National Society of Genetic Counselors provides a database of genetics
counseling services, searchable by location, name, institution, type of
practice, or specialty.
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The University
of Kansas Medical Center provides a list of links to genetic centers
and clinics, associations, and university genetics departments.
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The American College
of Medical Genetics has a Genetics Clinics Database for individuals who
wish to locate a U.S. genetics center.
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The American
Society of Human Genetics (ASHG) is a professional organization of
researchers and clinical geneticists. The ASHG maintains a database of its
members, some of whom live outside of the United States. Visit the ASHG site if
you are interested in obtaining a list of the geneticists in your country,
though some may be researchers only and may not offer medical care.
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How can I
find a researcher who is studying my condition?
Researchers who are studying a specific condition are another source for
identifying an expert. You may want to look for researchers who are conducting
a clinical trial, as they are often medical doctors. In addition to asking for
more information on their research, you can also find out if they see patients
who are not enrolled in a study. If a researcher does not see patients, you may
consider asking if they know a colleague who could help you. Some researchers
publish periodic updates on their discoveries, and it may be possible for you
to receive the latest information about their research.
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The Rare Diseases
Clinical Research Network (RDCRN) is made up of 19 consortia that are
working to improve the availability of rare disease information, treatment,
clinical studies, and general awareness for both patients and the medical
community. The RDCRN also aims to provide up-to-date information for patients
and to assist in connecting patients with advocacy groups, expert doctors, and
clinical research opportunities. Visit the RDCRN site to see if your condition
is supported by one of the RDCRN consortia.
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The Centers for Mendelian
Genomics program is working to discover the causes of rare genetic
disorders. This program is collaborating with healthcare providers and
researchers working with individuals who have Mendelian disorders. For more
information about the Centers, please visit their website.
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ClinicalTrials.gov was
developed by the U.S. National Institutes of Health, through the National
Library of Medicine, to provide patients, family members, and members of the
public with current information on clinical research studies. Through this
resource, you may be able to find researchers who are studying your condition.
Click here and
use the condition name as your search term. After you click on a study, review
its "eligibility" criteria to determine its appropriateness. Use the study's
contact information to learn more. Check this site often for regular updates.
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The Patient
Recruitment and Public Liaison (PRPL) Office at the National Institutes
of Health (NIH) provides information about participating in research being
conducted at the NIH Clinical Center hospital. Call the PRPL toll-free at
1-800-411-1222, or send an e-mail to prpl@mail.cc.nih.gov,
to contact a liaison who can help you determine if there are any open clinical
trials that interest you. They may also be able to provide you with contact
information for researchers involved in these trials.
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GeneTests lists laboratories offering research genetic testing for many
conditions. Much of this research is conducted by physicians and scientists
with an interest in a particular disease. To see if there are researchers
studying your condition, visit the link above and use the condition name as
your search term. Click on the "Research" tab on the results page.
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What if I can’t
find an expert?
You may want to consider contacting a doctor at a university health center in
your area, since university health centers tend to have the latest technology
and treatments. University health centers have doctors who are involved in
clinical trials and who may work together with others to diagnose and treat
patients.
MedlinePlus,
a Web site designed by the National Library of Medicine to help you research
your health questions, provides links to directories to help you find health
professionals, services and facilities.
If you have further questions, call 1-888-205-2311 to speak with a GARD
Information Specialist.