Genetic Testing Cost

Typical costs:

• Genetic testing typically is covered by health insurance when recommended by the patient's doctor. For patients covered by health insurance, out-of-pocket costs for genetic testing typically would consist of doctor visit and laboratory copays. Some covered patients choose to pay out of pocket for testing due to concerns about genetic discrimination[1] .
• For patients not covered by health insurance, genetic testing cost ranges from less than $300-$3,000 or more, depending on the individual, the type of test and the comprehensiveness of the test. In general, it is much less expensive to have a test for a specific variant or mutation known to run in the family than to have more comprehensive genetic test to help a diagnosis or predict a possible future problem. For example, The Medical Genomics Laboratory[2] at the University of Alabama at Birmingham offers a variety of genetic tests, for common and rare genetic disorders, ranging from $250 for some targeted tests for specific, previously known gene mutations in at-risk family members to $3,350 or more for some types of comprehensive testing. The Laboratory for Molecular Medicine[3] at Partners Healthcare in Massachusetts charges $400 for a targeted test for a familial known variant, and charges about $500-$1,100 for certain types of genetic alterations linked to various types of cancer; $400-$3,700 for testing for certain types of genetic alterations related to cardiomyopathy; $600-$1,300 for tests for certain genetic alterations related to congenital heart disease or defects; $550-$1,600 for testing for genetic alterations related to connective tissue disorders; $250-$3,800 for testing for genetic alterations related to hearing loss; and $1,650 for testing for genetic alterations related to cystic fibrosis.

• Genetic testing is available for more than 1,000 conditions, including cystic fibrosis[4] , polycystic kidney disease[5] and inherited breast and ovarian cancer. The Human Genome Project offers a list of some diseases[6] for which genetic testing is available.
• In genetic testing, the health care provider will take a blood sample or a cheek swab -- or, in the case of a fetus, amniotic fluid or a placenta tissue sample -- and send it to a laboratory, which performs an analysis to check for a genetic alteration. If the result is positive, the doctor will explain what that means for the patient. With some diseases, it means that the patient has the disease, but with others, such as certain types of cancers, it means that the patient has a greater risk of developing the disease. The National Human Genome Research Institute lists frequently asked questions about genetic testing.

• Before testing, a genetic consultation is recommended to help a patient understand and make decisions about genetic testing. This typically costs about $150 per hour, and the length of time needed depends on the complexity of the situation.
• Genetic testing can take more than a month in some cases. Some laboratories provide rush service for an added fee of $500 or more.

• Many doctors and hospitals give discounts of up to 30% or more to uninsured/cash-paying patients. For example, Washington Hospital Healthcare System[7] in California offers a 35% discount.

• A primary care physician can order a genetic test or provide a referral to a geneticist. Or, the American Board of Medical Genetics offers a geneticist locator[8] by city and state.
• Companies such as Lumigenix[9] , 23andMe[10] and Pathway Genomics[11] market genetic testing directly to consumers, though Pathway requires the patient to go through a doctor. The U.S. Food and Drug Administration[12] has written letters to manufacturers of such tests to suggest that FDA approval might be required in order for the companies to market their products. The National Institutes of Health offers an information sheet[13] on direct-to-consumer genetic testing.
• The National Center for Biotechnology Information offers a directory[14] of laboratories that offer genetic testing.

1.  ghr.nlm.nih.gov/handbook/testing/discrimination
2.  services.medicine.uab.edu/publicdocuments/genetics/images/PRICING032011.pdf
3.  pcpgm.partners.org/lmm/ordering/prices-CPTcodes#FAP_CPT
4.  www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/
5.  www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001531/
6.  www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml#testsavailable
7.  www.whhs.com/about/washington-hospital-discount-policy-for-uninsured/
8.  www.abmg.org/pages/searchmem.shtml
9.  www.lumigenix.com/
10.  /www.23andme.com/
11.  /www.pathway.com/
12.  www.fda.gov/medicaldevices/productsandmedicalprocedures/invitrodiagnostics/default...
13.  ghr.nlm.nih.gov/handbook/testing/directtoconsumer
14.  www.ncbi.nlm.nih.gov/sites/GeneTests/lab?db=genetests

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