Online medical genetics resources: a US perspectiveBMJ 2001; 322 doi: http://dx.doi.org/10.1136/bmj.322.7293.1035 (Published 28 April 2001) Cite this as: BMJ 2001;322:1035
- Roberta A Pagon, professor of paediatrics (, )
- Linda Pinsky, assistant professor of internal medicine,
- Christine C Beahler, librarian
- Correspondence to: R A Pagon, GeneClinics, Seattle, WA 98115, USA
Over the past decade daily advances in gene discovery fuelled by the human genome project have propelled molecular genetic testing into mainstream medicine. Molecular genetic testing is a sensitive, cost effective means of diagnosis, testing for carrier status, and prenatal diagnosis for many inherited disorders, and it is increasingly used for predictive and predispositional testing. Those who rely on genetic testing find it a challenge keeping up to date with information, particularly when guidelines for use lag behind the availability of tests. We looked critically at online resources relevant to geneticists, providers of primary care (who have been identified by their patients as the primary source of information on genetic testing (www.ama-assn.org/ama/pub/article/2304-2937.html)), and informed patients. 1 2
For geneticists, web based resources describe mendelian disorders, genetic testing in specific inherited disorders, ethical issues and resources, and protocols for screening newborn infants
Few resources exist for providers of primary care, who need tools to identify high risk patients and guidelines on effective interventions
Websites and directories provide information for consumers on lay organisations, the management of disease, patient advocacy, and support services
We relied on our experience as medical geneticist, teachers of medical students, residents and physicians in internal medicine and family practice, and medical librarians; our participation in genetics resources on the web (GROW), which promotes the development of high quality accessible internet resources on genetics3; and the genetics in primary care project, administered by the Society for Teachers of Family Medicine and cofunded by the Health Resources and Services Administration, the National Institutes of Health, and the Agency for Health Care Policy and Research (www.mchb.hrsa.gov/html/genetics.html). We selected resources that we determined to be of high quality by using the Mitretek criteria for evaluating health information on the internet (see BMJ's website).4
Uses of molecular genetic testing
Diagnosis (Friedreich's ataxia, for example)—Provides highly accurate diagnosis (~100% sensitive, ~100% specific)
Predictive testing without treatment (Huntington's disease, for example)—Identifies people who will develop the disease; to enable personal decision making
Predictive testing with treatment (Familial adenomatous polyposis, for example)—Identifies family members requiring early colectomy
Predispositional testing (BRCA1, for example)—Provides the probability of developing breast cancer and related cancers
Carrier testing (Tay Sachs disease, for example)—Detects heterozygotes among individuals at risk; for reproductive planning purposes
Prenatal testing (Cystic fibrosis, for example)—Permits informed decision making about continuing the pregnancy
Sites for genetics professionals
OMIM—Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/Omim) has a catalogue of genes and phenotypes. 5 6 The site is comprehensive (over 12 000 entries) and current (it is continuously updated with information from medical abstracts). Searches are by keyword (disease name, symptom, or clinical finding), and at the conclusion of each entry there is a list of clinical findings by organ system. In many entries the text synopsis “mini-MIM” links to PubMed abstracts and genomic databases. The disadvantages for clinicians are that the site focuses on discoveries in basic science and not clinical practice, there is a lack of a standardised format, the focus on historical completeness results in retention of outdated information, and there is no reconciliation by experts of complex and often contradictory information.
GeneClinics (http://www.geneclinics.org) helps clinicians to relate the information from genetic testing to the diagnosis, management, and genetic counselling of patients and families with specific inherited diseases. The site has over 100 entries for common mendelian disorders, with about one new entry a week. The site has a clinical focus with emphasis on current genetic testing. The format is authoritative (expert authored and peer reviewed), current (entries are updated at least yearly), and highly structured, with links to genomic databases, PubMed, OMIM, selected patient resources, and guidelines of the American College of Medical Genetics, American Society of Human Genetics, and National Society of Genetic Counselors. Its main disadvantage is the limited number of entries.
GeneTests (http://www.genetests.org) contains educational materials and a directory of over 480 international laboratories, listing tests for about 800 diseases. The site is updated annually and searches are by disease name or synonym, gene symbol, laboratory director, OMIM number, and clinical feature. It has direct links to laboratory websites and individuals who can be contacted. Its main disadvantage is insufficient detail to allow practitioners to select a laboratory without direct communication with the laboratory. The site also contains a directory of over 900 prenatal diagnosis and medical genetic clinics based in the United States. These are searchable by location, age group (prenatal, pediatric, adult), and disease specialty.
Kennedy Institute of Ethics, Georgetown University (bioethics.georgetown.edu/nirehg.html) provides an international directory of resources on ethics (under National Reference Center for Bioethics Literature (links/internet resources)) and an annotated bibliography of commonly encountered ethical issues in genetics in the “scope notes” series (under national information resource on ethics and human genetics).
National Newborn Screening and Genetics Resources Center (genes-r-us.uthscsa.edu/resources/newborn/state.htm) provides information on screening newborn infants for inborn errors of metabolism. This site is primarily for experts and policymakers.
National Center for Hearing Assessment and Management (http://www.infanthearing.org) provides information on screening newborn infants for congenital hearing loss. This site is primarily for experts and policymakers.
Sites for providers of primary care
Several sites contain resources targeted at genetics professionals that are also of value for providers of primary care.
Additional educational resources
Fears et al. Rational or rationed medicine? The promise of genetics for improved clinical practice. BMJ 2000;320:933-5. www.bmj.com/cgi/content/full/320/7239/933
De Bock et al. How women with a family history of breast cancer and their general practitioners act on genetic advice in general practice: prospective longitudinal study. BMJ 2001;322:26-7. http://bmj.com/cgi/content/full/322/7277/26
PDQ cancer genetics section of CancerNet of the National Cancer Institute (cancernet.nci.nih.gov/pdq/pdq_genetics.shtml) provides summaries of evidence based information about the genetic basis of breast, ovarian, and colorectal cancer for healthcare professionals. Plans are under way for more summaries aimed at healthcare professionals and for more patient oriented information.
Sites for patients
Genetic Alliance ((www.geneticalliance.org)), an American based consumer organisation, has a directory of support groups that can be searched by disease, organisation, or services offered. Information is given on the type of audience that the site is aimed at, services, contacts, publications, and links to other websites. Other features include notification of genetic conferences, tips on public policy (for example, dealing with the media and legislature), and a list of publications. Its main disadvantage is inconsistent updating.
The genetic and rare conditions site, Medical Genetics, University of Kansas Medical Center (www.kumc.edu/gec/geneinfo.html) provides a rich, eclectic collection of consumer oriented information. Diseases are identified through an alphabetical listing and linked to a page of lay advocacy groups. Annotation is minimal; there are direct links to the websites of other organisations. Its main disadvantage is poor organisation.
Family village: a global community of disability-related resources (www.familyvillage.wisc.edu/index.html) provides both disease specific and general information for parents and carers of patients with disabilities. The site is visually appealing and user friendly and rich in general resources such as communication, adaptive products and technology, recreational activities, education, worship, and disability related media and literature.
NOAH: New York online access to health (http://www.noah-health.org) is a bilingual resource (English and Spanish) receiving information from several sources such as the March of Dimes, the National Cancer Institute, and some New York hospitals. The “genetic disorders” page provides background information on genetics and genetic testing written for consumers, as well as disease specific information.
Genes and disease (www.ncbi.nlm.nih.gov/disease) provides readable, well illustrated, and concise information on specific diseases, with links to PubMed, GeneClinics, OMIM, Locus Link, and consumer groups. Searches are by chromosome or body system.
Most web based resources in medical genetics are targeted at geneticists or consumers; we identified only one resource for providers of primary care. We noted deficiencies in three areas. Firstly, despite the widespread use of preconception screening to detect carriers for autosomal recessive disorders, we found no resources that summarised the screening protocols for any audience. Secondly, Medline (http://www.ncbi.nlm.nih.gov/PubMed) does not recognise the term “genetic testing,” only “genetic screening,” which retrieves many irrelevant citations. Many genetic diseases (with evolving names) lack a medical subject heading (MeSH); thus, finding relevant citations requires keyword searches with as many synonyms as possible. Finally, genetic risks can be based on family history and population characteristics.7–9 For families at high risk, the standard pedigree over three generations obtained by geneticists in the course of formal genetic counselling yields high quality information; however, this process is too time consuming and yields irrelevant information for doctors dealing with low risk patients. A standardised “pedigree tool” that efficiently combines population data with that from a family history to identify patients with high genetic risks is believed to be the key to incorporating genetics into the care of every patient in a primary care setting.10 Although such tools are under development in both commercial (http://www.genetichealth.com; familygenetix.com) and academic settings, 11 12 none yet exist.
No resource has population based data to enable informative estimates to be provided for the predictive value of predispositional testing in a primary care setting. Nor are there resources to guide doctors in preventive care for inherited disorders
Competing interests Competing interests: RAP is editor in chief of GeneClinics, medical director of GeneTests, and educational consultant to the genetics in primary care project. LP is primary care consultant to GeneClinics and educational consultant to the genetics in primary care project. CCB is librarian of GeneClinics.
The Mitretek criteria for evaluating the quality of health information on the internet appears on the BMJ's website