Created October 1995, sections last revised
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© 1995-2002 Debra Collins, M.S., CGC, Genetic Counselor, Genetics Education Center, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160-7318 dcollins@kumc.edu
Diagnostic Programs | Pedigree Drawing | Teratogens | Other Sites | Databases | Professional | Education | Internet Health References | Genetic Conditions
II. Diagnostic and Information Services, Software, Programs
- D. POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations) Version 5.1, Dr. Agnes Bankier and John Marquet ~$1000, The Murdoch Institute for Research into Birth Defects, P.O. Box 1100 Parkville 3052 Melbourne, Victoria AUSTRALIA Voice: (613) 8341 6201 Fax: (613) 348-1391 ACN: (006) 566-972 www.possum.net.au/
- 1. CD-ROM for Windows 95, Windows NT or Macintosh
- 2. Links to Internet - OMIM
- 3. Incorporates OSSUM 2.0 (Skeletal dysplasias)
- 4. Includes chromosome aneuploidy
- 5. POSSUM and PLATYPUS Databases, Ron Davidson, MD, FRCPC, 132 Cline Avenue North Hamilton, Ontario Canada L85 3Z8 Voice:(905)525-4183 Fax:(905)525-4183 E-mail: davidsnr@fhs.csu.mcmaster.ca
J. Calculate probability of a HNPCC mutation based on average age of diagnosis of colon cancer, if endometrial cancer is present, and if Amsterdam criteria are met. www.nfdht.nl (unzip the file with unzip software)
K. BIOSIS GenRef on CD (plants, animals, human, microorganisms) 2100 Arch St., Philadelphia, PA 19103-9854, (800) 523-4806 or (215) 587-4847, Fax (215) 587-2016, E-mail: info@mail.biosis.org, URL: www.biosis.org in human genetics, references Genetic Counselling and American Journal of Human Genetics
L. GENINFER, to assist genetic counselors in evaluating the risk of recurrence of genetic disorders based on the analysis of family pedigrees. medg.lcs.mit.edu/projects/geninfer.html
M. SynDiag (Syndrome Diagnosis) ~$600, free demo members.tripod.com/~kolosov/ Helena Ilyina, DM. and Stanislav Kolosov, PhD, Belorussian Institute for Hereditary Diseases, Minsk, Belarus, Phone: (375-17) 213-05-15, 258-13-42, Fax: (375-17) 237-85-13, e-mail: kolosov@gw.bsuir.unibel .by or ilyina@bcsmi.minsk.by For diagnosing MCA/MR syndromes of different etiology (monogenic, chromosomal, teratogenic, etc.), ectodermal / skeletal dysplasias, systemic complexes. Includes 1) ~1600 minor / major malformations and dysplasias, functional, laboratory and roentgenologic data; 2) syndrome pattern library (~ 2200 nosologic forms), clinical images, references; 3) photo library ~700 photos
N. Search by signs (formerly GENDIAG), ORPHANET, for dysmorphic syndromes and not for the entire set of rare diseases. Database created in 1996, information on 1,150 rare diseases and orphan drugs, each with text written by expert, links to current research, diagnostic laboratories, support groups, outpatient clinics, orphan drugs. Services in France, Germany, Belgium, Italy and Switzerland
O. Jablonski's Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database, National Library of Medicine (NLM), database of structured descriptions of congenital abnormalities associated with mental retardation, © Copyright 1999
III. Pedigree Drawing Programs
N. TreeBuilder, Genetic Health, requires sign-in, www.genetichealth.com/entry.shtml
O. Tools for taking a Family History
- My Family Health Portrait, a tool for taking a family history, U.S. Surgeon General [free download, My Family Health Portrait] (2004) A new, revised 2005 version of the tool, called "My Family Health Portrait" is a web-enabled program that runs on any computer that’s connected to the web and running an up-to-date version of any major Internet browser. The new version of the tools offers numerous advantages over last year’s version.
- My Family Health Portrait,paper version, English or Spanish [requires Adobe Acrobat Reader - download free]
- Family History Tool, family history forms, prenatal and pediatric questionnaires, American Medical Association (2003)
- Your Family History, American Society of Human Genetics, the National Society of Genetic Counselors and Genetic Alliance
- Family History Chart, Colorectal Cancer, Cancer Research and Prevention Foundation (2003)
- Pedigree Data Processing System, Fred Hutchinson Cancer Research Center (2003)
Related Resources
- The Genetic Family History Tool, R. Bennett, NCHPEG
- How to Record Your Family History, American Society of Human Genetics
- Cancer History Guide, Learn More About Your Family's Cancer History, Myriad
- Assessing Your Genetic Risk / Genetic Counseling, Cancer Family Tree tool, Omaha
- Family History as a Tool for Family Health, CDC, FamilyTree
- Old Disease Names and Their Modern Definitions, GAPS Index
- A. REPROTOX® Reproductive Hazard Information, Environmental Impact of Human Reproduction and Development. Developed in 1980's, updated regularly. URL: reprotox.org/ Impact of physical and chemical environment on human reproduction and development. All aspects of reproduction including fertility, male exposures, lactation, reproductive influence of industrial and environmental chemicals; prescription; over-the-counter, and recreational drugs; and nutritional agents. Reproductive Toxicology Center, Columbia Hospital for Women Medical Center, 2440 M St.NW, Suite 217, Washington, DC 20037-1404 Voice: (202) 293-5138 Fax: (202) 778-6199
- B. REPRORISK® - Micro Medics, 600 Grant Street, Denver CO 80111 Voice: (800) 525-9083. CD-ROM collection of reproductive risk information databases, helps professionals evaluate reproductive risks of drugs, chemicals, and physical and environmental agents on males, females, and unborn children. Includes the REPROTEXT® and REPROTOX® Systems, Shepard's Catalog of Teratogenic Agents and TERIS Teratogen Information System.
- URL: www.mdx.com/, Drug Infomation, Micro Medex REPRORISK system comprises four databases - REPROTOX®, REPROTEXT®, TERIS, and Shepard's Catalog (fact sheet, pdf) REPROTEXT® - first released in 1990, database on acute and chronic exposure to over 600 industrial chemicals and physical agents and their carcinogenic, genetic, and reproductive effects. www.mdx.com/
- C.TERIS (Teratogen Information System) - Yearly subscription ~$1000 University of Washington, TERIS PROJECT, WJ-10, Box 38, Seattle, WA 98195 URL: depts.washington.edu/~terisweb/
- 1. Current information on teratogenic effects of >700 drugs and environmental agents. Agent summaries, from literature review, rate reproductive risk and explain data used to arrive at ratings.
- 2. Agent summaries retrieved by domestic, international, generic and proprietary names
- 3. On SilverPlatter at some Medical Centers
- D. TOXNET Toxicology Data Network, National Library of Medicine, toxnet.nlm.nih.gov/servlets/simple-search
- E. Organization of Teratology Information Services (OTIS), orpheus-1.ucsd.edu/otis/index.html Includes fact sheets
- F. Physicians' Desk Reference® (PDR) - www.medecinteractive.com/
- G. AED Pregnancy Registry (Antiepileptic Drug Pregnancy Registry), risks associated with different AEDs -- old and new-- so appropriate counseling can be given to pregnant women. Registry, Flyers/Fact Sheets (English, Spanish, French), Patient Cards, Slides, Updates
H. California Teratogen Information Services, Mexican medications, cross-reference, spanish speaking counselors. Genetic Counselors (only) can call 619.543.2128. General population 619.543.3121
- I. Breastfeeding Pharmacology, TW Hale, R.Ph. Ph.D., Texas Tech University School of Medicine also Clinical Therapy in Breastfeeding Patients
- J. ORPHANET, database created in 1996, information on rare diseases and orphan drugs. Information on >1,150 rare diseases, each with text written by expert, with links to current research, diagnostic laboratories, support groups, outpatient clinics, orphan drugs. Services in France, Germany, Belgium, Italy and Switzerland.
- K. Teratogens Information
V. Other Genetic Internet Information
- Breastca 1.0, Cancer Resources:GAIL and Claus models, free software available for the Palm operating system. Claus model calculates age related risk for the patient. (if the patient is 50, it calculates their empirical risk of developing breast cancer from the age of 50 to 79. (not age 0 to 79). www.tucows.com (scroll to PDA section, click on palm, search for "breast" for Breastca 1.0, download and install to palm PDA (palmpilot, handspring visor, Sony PDA etc.)
- CancerNet (OncoLink, cancer - L, patient, physician information, etc) E-mail: cancernet@icicb.nci.nih.gov URL: cancernet.nci.nih.gov/
- CHID (Combined Health Information Database) bibliographic database, federal health-related agencies,education resources for health professionals, health educators, patients, the public. BRS Online, Attn: CHID Database, 8000 Westpark Drive, McLean, VA 22101 Voice:(800)955-0906. Planned: Human genetics and gene therapy information, written materials & citations, community resources (voluntary organizations/ support groups) chid.nih.gov/
- CORN (Council of Regional [Genetic] Networks) www.emory.edu/PEDIATRICS/corn/corn.htm NO LONGER ACTIVE
- 1. Great Plains Genetics Service Network, teratogen information, nursing curricula, spina bifida curricula, Native American genetics curricula, etc. Bradley Schaefer, MD, University of Nebraska Medical Center, Meyer Rehabilitation Institute, 600 South 42nd, Omaha, NE 68198-5440. Voice:(402) 559-5070 Fax:(402)559-7248
- 2. SERGG Chromosome Database - structural chromosome anomalies database. FPArena, M.D., Ph.D., Univ Miami School of Medicine, Depart Pediatrics, Division of Genetics, P.O. Box 016820 (D-820), Miami, FL 33101-6820. Voice:(305)547-6048 Fax:(305)547-3919
- Chromosome empiric risk calculations - inherited balanced autosomal translocations, risk for offspring, miscarriage, unbalanced fetus, based on database of cases. Carolyn Trunca, Ph.D., Genetics Center, 48 Rt. 25A, Suite 205, Smithtown, NY 631.862.3620, FAX 631.862.3622 www.thegeneticscenter.com/transrsk.htm
- Dermatology Laboratory Tests / Protocols, University of Rochester, www.urmc.rochester.edu/dermdb/
- Grant Information - private & government proposals (RFP's) depts.washington.edu/gcs/ or NIH www.nih.gov/grants/oer.htm
- Dysmorphology Discussion Board genetics.ich.bpmf.ac.uk//DDB/ddb.html
- Familial Cancer Database, UICC Cancer, the Netherlands - suggests syndrome(s) from clinical features, syndrome summareis, references, cancer syndromes on chromosomes / genes
- The Family Village, L Rowley, Project Coordinator, 549 Waisman Center, 1500 Highland Avenue, Madison, WI 53705-2280. Voice:(608)263-5973, E-mail: rowley@waisman.wisc.edu URL: www.familyvillage.wisc.edu/
- Genetic / Rare Conditions Support Groups www.kumc.edu/gec/support/
Genetic Alliance (formerly Alliance of Genetic Support Groups), Web site: www.geneticalliance.org/
Genetic Teaching Resources, Debra L. Collins, M.S., Genetics Education Center, University of Kansas Medical Center, 3901 Rainbow Blvd., 4023 Wescoe, Kansas City, KS 66160-7318. Voice:(913) 588-6043 Fax:(913) 588-4060 E-mail: dcollins@kumc.edu Web site: www.kumc.edu/gec
- Heredity Hearing Impairment Resource Registry (NIDCD HHIRR) Boys and Girls Town, National Research Hospital, Omaha NE 68131 Voice:(402)498-6612 or (800)320-1171
- Human Cytogenetics Forum (HC Forum), France, calculates recurrence risks for specific translocations, generates schematic for counseling. Password protected site, contact coordinator, Dr. Olivier Cohen, Olivier.Cohen@imag.fr, for access. Does not calculate X-chromosome / autosome chromosome translocations HCForum.imag.fr
- Human Genome Program, Department of Energy (DOE) www.er.doe.gov/production/ober/hug_top.html
- NHGRI (National Human Genome Research Institute) www.genome.gov/ Office of Science Education and Outreach (OSEO) www.genome.gov/page.cfm?pageID=10000552
- LISTSERV / Mailing lists
- 1. Genetic Counseling LISTSERV (available to National Society of Genetic Counselor members, January 1997) Contact NSGC to subscribe
- 2. CLINGEN-L Clinical Genetics Mailing List for medical professionals. To subscribe, send the message "subscribe CLINGEN-L [your name]" to listserv@listserv.utoronto.ca
- 4.GENETICS Mailing List, open to everyone interested in clinical human genetics. To subscribe, send a message explaining your interest to ized100@indyvax.iupui.edu
- 5. HUM-MOLGEN Mailing List for clinicians, geneticists, molecular biologists, students and other individuals interested in molecular genetics
- 6. METAB-L Mailing List, for Inborn Errors of Metabolism professionals (physicians, biochemists and scientists only). To subscribe, send the message "subscribe metab-l [your email-address]" to majordomo@rachael.franken.de
- 7. METABOLISM Mailing List for pediatric metabolic disease professionals (European emphasis). To subscribe, send the message "subscribe metabolism" to majordomo@belnet.be
- 8. SKELDYS Mailing List, an unmoderated mailing list for Skeletal Dysplasia specialists, sponsored by the International Skeletal Dysplasia Registry at Cedars-Sinai Medical Center, Los Angeles, CA. To subscribe, send the message " subscribe skeldys [your e-mail address]" to mailserv@csmc.edu
- March of Dimes Resource Center, pre-pregnancy, pregnancy, birth defects, genetics, drugs and environmental hazards during pregnancy, other
Merck Manual: General Genetics · Inheritance of Single-Gene Defects · Multifactorial Inheritance · Nontraditional Inheritance · Chromosomal Disorders · Mitochondrial DNA Abnormalities · Cancer Genetics · Immunogenetics, Forensic Genetics, Genetic Therapy · Congenital Anomalies · Prenatal Evaluation and Counseling · pedigree symbols · pharmacogenetics · other
- Mothers United for Moral Support (MUMS) 150 Custer Ct., Green Bay, WI 54301 (414) 336-5333 www.netnet.net/mums/
National Center For Education In Maternal And Child Health (NCEMCH), Information Services, 2000 15th Street North, Suite 701, Arlington, VA 22201-2617. Voice:(703)524-7802 Fax:(703)524-9335, www.ncemch.org/, info@ncemch.org
National Information Center For Children And Youth With Disabilities (NICHCY), P.O. Box 1492, Washington D.C. 20013-1492 Voice:(202)884-8200 Fax:(202)884-8441 URL: www.nichcy.org/index.html
National Library of Medicine (NLM), MEDLINE, Lister Hill National Center for Biomedical Communications, 8600 Rockville Pike, Building 38A, Room 707, Bethesda, MD 20894 Voice:(301)496-4441 Fax:(301)402-0118, Search MEDLINE and other NLM files & journals free igm.nlm.nih.gov/
- 1.PubMed www4.ncbi.nlm.nih.gov/PubMed/
- 2. GenBank (National Center for Biotechnology Information - NLM & NIH division)
- a. URL: www.ncbi.nlm.nih.gov
- b. CD-ROM version of Entrez (Windows, MAC) system, subset of MEDLINE, $102/year (discs) e-mail: info@ncbi.nlm.nih.gov
- 3. HSTAT (Health Services Technology Assessment Texts)- practice guidelines, reference guides, consumer brochures, reports, nichsr@nlm.nih.gov
- NORD (National Organization For Rare Disorders, Inc.), P.O. Box 8923, New Fairfield, CT 06812-1783, Voice:(800)999-6673 or Joy E. Yacolucci, Research Voice:(203)746-6518 TDD:(203)746-6729 Fax:(203)746-6481 www.rarediseases.org/
Office of Rare Diseases (ORD), National Institutes Of Health, 31 Center Drive, MSC 2082, Room 1B03, Bethesda, Maryland 20892-2082, Telephone: 301-402-4336, Fax: 301-402-0420, E-mail: sg18b@nih.gov, web site: rarediseases.info.nih.gov/ord/
- Parents Helping Parents www.pacer.org/parent/parent.htm and Parent To Parent Of Georgia, Inc., 2939 Flowers Road, South Suite 131, Atlanta, GA 30341 Voice: (404)451-5484 URL: www.parenttoparentofga.org/
- Primer on Molecular Genetics, DOE
- PubMed / Entrez - gene sequencing, MEDLINE related subset, abstracts on topics. www.ncbi.nlm.nih.gov/Entrez
Other National and International Organizations information on genetic conditions
VI. Other Resources and Private Databases (some not online)
- A. Birth Disorder Information Directory
- B. Catalog of Multilingual Patient Education Materials, Genetic and Related Maternal / Child Health Topics, Gisela Rodriquez & Andrea DeVico, Center for Human & Molecular Genetics, New Jersey Medical School, 90 Berge St., Suite 5400, Newark, NJ 07103-2499 Voice:(201)982-3300 Fax:(201)982-3310 E-mail: rodriggi@umdnj.edu or devlcoal@umdnj.edu, order form (.txt) or (.pdf)
- C. California Genetics Education Resource Center, Kathleen Velazquez, MPH, Genetics Disease Branch, California Department of Health Sciences, 2151 Berkeley Way, Annex 4, Berkeley, CA 94704. Voice:(510)540-2696
D. Metabolic Information Network (MIN), Susan G. Mize, P.O. Box 670847, Dallas, TX 75367-0847, Phone: 214.696.2188, 800.945.2188, data on inborn errors of metabolism, for professionals, research investigators, patients seeking access to treatment. Case register of 86 diagnoses, physician directory for 200 inborn errors of metabolism, listing of world-wide metabolic patient registries and patient databases
- E. Gallaudet University Research Institute, Genetic Studies of Non-Syndromic Deafness, Early Onset Deafness, Washington, DC 20002
F. Michigan Human Genetics Videotape Lending Library, Michigan Dept Public Health-CSHCS, Lansing, MI 48909, 517.335.8887 G. Rare Disorder Network, General Clinical Research Centers (GCRC), Core Laboratories, Thomas L. Davis, MD, Director, AA 3223, Medical Center North, Vanderbilt University Medical Center, Nashville, TN 37232-2195. Voice:(800) 428-6626 Fax:(613) 343-0124 H. Sensory Genetics/Neuro-Development Vision Screening Project, SLHDavenport, MD, Bloomington, MN 55437-1739, 612.831.5522 I. Shodair Hospital Family Resource Library, SHolt, AHIP, PO Box 5539, Helena MT 59604, 406.444.7534
VII. Internet Information References
- Using the Internet to Disseminate Genetics Information for Public Health, Genetics and Public Health: Ethical, Legal and Social Issues
- At the Crossroads: The Intersection of the Internet and Clinical Oncology, Oncology, Vol 13, No 4 (April 1999)
- Genetics Education Center
- University of Kansas Medical Center
- 3901 Rainbow Blvd., 4023 Wescoe Pavilion
- Kansas City, KS 66160-7318
- E-mail: dcollins@kumc.edu
- FAX: (913) 588-4060
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Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu
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