Genetic tests are tests on blood and other tissue to find genetic disorders. About 900 such tests are available. Doctors use genetic tests for several reasons. These include
- Finding possible genetic diseases in unborn babies
- Finding out if people carry a gene for a disease and might pass it on to their children
- Screening embryos for disease
- Testing for genetic diseases in adults before they cause symptoms
- Confirming a diagnosis in a person who has disease symptoms
People have many different reasons for being tested or not being tested. For many, it is important to know whether a disease can be prevented or treated if a gene alteration is found. In some cases, there is no treatment. But test results might help a person make life decisions, such as career choice, family planning or insurance coverage. A genetic counselor can provide information about the pros and cons of testing.
National Human Genome Research Institute
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Genetic Testing: What You Should Know(American Academy of Family Physicians) - http://familydoctor.org/online/famdocen/home/healthy/prevention/462.printerview.html
Also available in Spanish http://familydoctor.org/online/famdoces/home/healthy/prevention/462.printerview.html
- Genetics Home Reference: What is genetic testing?(National Library of Medicine) - http://ghr.nlm.nih.gov/handbook/testing/genetictesting
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Frequently Asked Questions about Genetic Testing
(National Human Genome Research Institute) - http://www.genome.gov/19516567
- Gene Testing(Human Genome Project) - http://www.medem.com/medlb/article_detaillb.cfm?article_ID=ZZZXTUNG4BC&sub_cat=205
- Genetic Testing(Nemours Foundation) - http://kidshealth.org/parent/system/medical/genetics.html
- Genetic Testing(Genetics and Public Policy Center) - http://www.dnapolicy.org/science.gt.php
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New Computer-Based Tools Will Help Make Best Use of Genetic Breast Cancer Tests(09/22/2008, Agency for Healthcare Research and Quality) - http://www.ahrq.gov/news/press/pr2008/gtestbrcpr.htm
- Chromosome Tests Help Study of Kids' Mental Anomalies(09/10/2008, HealthDay) - http://www.nlm.nih.gov/medlineplus/news/fullstory_69138.html
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NHGRI Seeks DNA Sequencing Technologies Fit for Routine Laboratory and Medical Use(08/20/2008, National Human Genome Research Institute) - http://www.nih.gov/news/health/aug2008/nhgri-20.htm
- At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription(Federal Trade Commission) - http://www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.shtm
- Tests Purchased from Four Web Sites Mislead Consumers(Government Accountability Office) - http://www.gao.gov/highlights/d06977thigh.pdf
- ACMG Statement on Direct-to-Consumer Genetic Testing(American College of Medical Genetics) - http://www.acmg.net/StaticContent/StaticPages/DTC_Statement.pdf
- Ancilliary Services(University of Washington) - http://www.genetests.org/servlet/access?id=8888892&key=fPQocRVt6V2DC&fcn=y&fw=vz7L&filename=/concepts/primer/primerservices.html
- Genetic Testing: Weigh Benefits and Risks(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/genetic-testing/FL00076/METHOD=print
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Genetics Home Reference(National Library of Medicine) - http://ghr.nlm.nih.gov/
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Human Genetic Variation(National Institute of General Medical Sciences) - http://www.nigms.nih.gov/Publications/Factsheet_GeneticVariation.htm
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Looking at My Genes: What Can They Tell Me?(National Institute of Mental Health) - http://www.nimh.nih.gov/health/publications/looking-at-my-genes-what-can-they-tell-me.shtml
- Ordering Genetic Testing(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=ipsmZ1zqFz7Wg&fcn=y&fw=a2-B&filename=/concepts/primer/primerordertest.html
- Parentage Testing(American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/features/genetics-6.html
- Pharmacogenomics: When Drug Treatment Becomes Personalized Medicine(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/personalized-medicine/CA00078/METHOD=print
- Pregnancy: Genetic Testing for Inherited Diseases(American Association for Clinical Chemistry) - http://labtestsonline.org/understanding/wellness/pre_genetic.html
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Understanding Cancer Series: Gene Testing(National Cancer Institute) - http://www.cancer.gov/cancertopics/understandingcancer/genetesting
Also available in Spanish http://www.cancer.gov/cancertopics/understandingcancer/espanol/las-pruebas-geneticas
- Universe of Genetic Testing(American Association for Clinical Chemistry) - http://www.labtestsonline.org/understanding/features/genetics.html
- Uses of Genetic Testing(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=Y7dU7-YV1TLYB&fcn=y&fw=FbIX&filename=/concepts/primer/primerusesof.html
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What Is Direct-to-Consumer Genetic Testing?(National Library of Medicine) - http://ghr.nlm.nih.gov/handbook/testing/directtoconsumer
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ClinicalTrials.gov: Genetic Screening(National Institutes of Health) - http://clinicaltrials.gov/search/open/intervention=%22genetic+testing%22
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Genetic Mapping(National Human Genome Research Institute) - http://www.genome.gov/10000715
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Genetic Testing: How It Is Used for Healthcare(National Institutes of Health) - Links to PDF - http://www.nih.gov/about/researchresultsforthepublic/genetictesting.pdf
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Genetic and genomic discovery using family studies. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18765388&tool=MedlinePlus
- Article: Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18720039&tool=MedlinePlus
- Article: Psychiatric genetic tests raise concerns. Home kits are now available,... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18672502&tool=MedlinePlus
- Genetic Testing -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=(genetic+screening[majr]+OR+heterozygote+detection[majr]+OR+cytogenetic+analysis[majr]+OR+prenatal+diagnosis[majr]+NOT+neonatal+screening[majr])+AND+english[la]+AND+humans[mh]+AND+(jsubsetk[text]+OR+patient+education+handout[pt]+OR+review[pt]+OR+guideline[pt]+OR+clinical+trial[pt])+NOT+(letter[pt]+OR+editorial[pt]+OR+news[pt]+OR+case+reports[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Glossary(University of Washington) - http://www.genetests.org/servlet/access?qry=ALLTERMS&db=genestar&fcn=term>report2=true&id=8888891&key=gSBBKquWNdW6m
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Talking Glossary of Genetic Terms(National Human Genome Research Institute) - Requires media player - http://www.genome.gov/glossary.cfm
Also available in Spanish http://www.genome.gov/sglossary.cfm
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Cancer Genetics Services Directory(National Cancer Institute) - http://www.cancer.gov/search/genetics_services/
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Genetic and Rare Diseases Information Center(Office of Rare Diseases) - http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
- Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
- US Clinic Directory Search(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=yLoqrsrCVms-M&fcn=y&fw=ZDht&filename=/clinicsearch/searchclinic.html
- GeneTests(University of Washington) - http://www.genetests.org/
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National Human Genome Research Institute - http://www.genome.gov/
- National Office of Public Health Genomics(Centers for Disease Control and Prevention) - http://www.cdc.gov/genomics/
- Genomics & Health Weekly Update(Centers for Disease Control and Prevention) - http://www.cdc.gov/genomics/update/current.htm
- Direct-to-Consumer Genetic Testing: Empowering or Endangering the Public?(Genetics and Public Policy Center) - http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=32
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Genetic Discrimination Nondiscrimination Act of 2008(National Human Genome Research Institute) - http://www.genome.gov/page.cfm?pageID=10002328
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Issues in Genetics and Health(National Human Genome Research Institute) - http://www.genome.gov/10001740
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Policy and Legislation Database(National Human Genome Research Institute) - http://www.genome.gov/PolicyEthics/LegDatabase/pubsearch.cfm
- Reproductive Genetic Testing: What America Thinks(Genetics and Public Policy Center) - http://www.dnapolicy.org/pub.reports.php?action=detail&report_id=6
- Who Regulates Genetic Tests?(Genetics and Public Policy Center) - http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=10
- Screening Tests for Newborns: Genetic Testing for Newborns at Increased Risk(American Association for Clinical Chemistry) - http://labtestsonline.org/understanding/wellness/a_newborn-3.html
- What Is a Pediatric Geneticist?(American Academy of Pediatrics) - Links to PDF - http://www.aap.org/family/WhatisPedGeneticist.pdf
- Birth Defects - http://www.nlm.nih.gov/medlineplus/birthdefects.html
- Genetic Counseling - http://www.nlm.nih.gov/medlineplus/geneticcounseling.html
- Genetic Disorders - http://www.nlm.nih.gov/medlineplus/geneticdisorders.html
- Newborn Screening - http://www.nlm.nih.gov/medlineplus/newbornscreening.html
- Prenatal Testing - http://www.nlm.nih.gov/medlineplus/prenataltesting.html
- Diagnostic Tests - http://www.nlm.nih.gov/medlineplus/diagnostictests.html
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
- Pregnancy and Reproduction - http://www.nlm.nih.gov/medlineplus/pregnancyandreproduction.html
The primary NIH organization for research on Genetic Testing is the National Human Genome Research Institute - http://www.genome.gov/