Genetic Testing Billing Expert’s Report Regarding Genetic Billing Ethics and Privacy Challenges

Finding a genetic testing billing expert witness is complex.  A genetic test cost expert who can serve as an expert witness requires verification of an understanding of several concepts. This article summarizes some of the issues.

Medically Necessary Genetic Testing vs. Fraud Waste and Abuse

The impetus for finding a Genetic Testing Billing Expert may lie in fraud, waste, or abuse allegations.  Laboratory tests are the highest-volume medical intervention.  Over 6.5 billion laboratory tests are performed annually in the U.S. Diagnostic testing may impact greater than sixty-five percent (65%) of clinical decisions.   Yet, overall mean rates of over-and underutilization were 20.6%, and underutilization was 44.8%.

As a result, a genetic test medical cost expert who understands Utilization Management, Clinical Policies, Medicare Local Coverage Determinations (Medicare LCDs), and Commercial Insurer Medical Necessity Policies is invaluable.

Genetic Testing and the Human Genome

Genomic medicine is revolutionizing medicine and creating new opportunities for predictive diagnosis and precision medicine. When the human genome was mapped, it created new genetic tests opportunities to predict, prevent and treat disease.  To illustrate, genetic tests hereditary colorectal and breast cancers can assess the risk of disease and guide screening and preventive measures.  Different types of tests may predict ideal chemotherapy treatments.  Still others predict likelihood of toxicities to avoid exposing patients to ineffective or overly toxic regimens.

There are many other examples of clinically beneficial information available through new advanced genetic tests. For example, Innovation and knowledge work together to create intersections between traditional medical specialties and classifications of tests, such as “Pathology supported genetic testing (PSGT)” PSGT is an intersection of evaluating both environmental and genetic factors.

Insurance Coverage for Genetic Tests

Genetic testing is beneficial for diagnostic care, but it is important that patients have access to this type of care.  Payers (also known as health plans, insurance companies including private insurance and public options such as state Medicaid and federal Medicare need Standardized ways of evaluating genetic tests for reimbursement. Currently, the number and complexity of tests can make it difficult for payers to do so.

Medical Coding Specificity for Genetic Tests and Insurance

One challenge payers face deciding when to reimburse for genetic tests that health care providers have offered their patients.  One reason this can be difficult is that without the clinical documentation of the prescribing physician, insurers may not be able to easily adjudicate the context for which the genetic test was performed, which test within a panel was of interest, whether the test was medically necessary, and which medical code is correlated with the test or panel of tests.

Genetic tests and panels of tests are billed using a type of medical code called “Current Procedural Terminology (CPT®) codes, copyright ® by The American Medical Association.  According to my research, as of February 2021, approximately 300 CPT codes pertain to the description (genetic test).  According to the U.S. National Institutes of Health, there were 75,000 genetic tests as of 2018.  Therefore, there is no one-to-one mapping of a specific CPT code to a specific test.  One way that this is addressed is for genetic test providers to perform a ‘panel’ of tests that all correlate to one CPT code.

Genetic Test Innovation

Genetic testing innovation is causing new tests to come to market rapidly.  In a 2018 article, Risk Lewis, Ph.D. pointed out that ten new genetic tests available every day.  The basis for this was as follows: Health Affairs noted that approximately 14% of tests were multigene panels. The panels include over 9,000 multianalyte assays, 85 Noninvasive prenatal testing (NIPT), 122 whole-exome sequencing tests, and 873 whole-genome sequencing tests. Since 2014, over 13,000 tests were added, which is an average rate of about ten per day, and two or three of these assess more than one gene. On average, there are two exome sequencing tests and two new NIPT products.

Moreover, payers are challenged to update their medical policies, processes, and I.T. systems to adjudicate claims that comprehend the volume of new genetic and next-generation sequencing tests. Additionally, there is a lack of extensive data on the economics of genetic testing.  Geneticists are needed on the payer medical staff to review utilization management. For example, a precise determination of which tests should be covered and under what circumstances. NIH has an initiative that serves as a resource for advancing genomic medicine. Their goal is first to assist payers in evaluating new genetic tests for reimbursement.  Second, NIH promotes research of health and cost benefits of genetic testing.

Methods Used by Genetic Test Providers and Health Insurance to Determine Coverage for Genetic Testing

Genetic test labs may accept specific commercial insurance and share their in-network status with commercial health plans.  If the health plan does not cover the specific services at a lab that is out of network, the patient is financially responsible for higher member responsibility amounts.  Typically, the payer provides an Explanation of Benefits (or “EOB”) itemizes, which may include co-pay, coinsurance, and unmet deductible.

Genetic Testing Insurance Billing Process

Insurance Billing Forms

Health plans such as United Health, Aetna, and Cigna as well as managed Medicaid and Medicare may require documentation to complete the prior authorization and billing process.

Healthcare Provider Orders a Test and Benefit Investigation (B.I.), which may be processed by a third-party laboratory benefit manager (LBM)

Healthcare providers may initiate an order and perform a B.I.   Usually, for billing purposes and insurance prior authorization, the licensed clinician is required to submit:

  • Summary of the patient clinical diagnosis
  • Clinical documentation, any summary from a genetic counseling appointment
  • The ICD 10-CM diagnosis code(s).  The highest level of code specificity should be used
  • Insured or beneficiary’s prior authorization reference number if the insured is already approved
  • Where applicable, a summary of three-generation maternal and paternal family history

Prior Authorization (P.A.)

If a patient’s health insurance plan requires prior authorization or medical pre-certification, the test will be in a pending status until an approved P.A. is obtained.After the Test, if Performed, the Genetic Test Provider Sends a Bill to the PatientThe American College of Medical Genetics and Genomics and the National Society of  Genetic Counselors published referral indications for cancer predisposition assessments.

After testing and a claim is submitted to the insured / patient’s payor, the patient’s health insurance company provides an Explanation of Benefits (EOB) statement.  The genetic test laboratory sends a bill and a claim submitted to the patient’s health insurance company to the patient for the member financial responsibility amount indicated on the EOB.  Some genetic testing facilities offer financial assistance.

Suppose a patient’s family cancer history suggests that they may be at risk of developing a specific type(s) of cancer. In that case, a treating physician may refer to a genetic counselor and explore genetic testing.

Examples of Classifications and Types of Genetic Tests

Types of genetic tests available for hereditary cancer

Most cancers began when genetic changes called mutations occur in our cells.  Such genetic changes are called acquired mutations. One generation passes to the next and is termed a germline mutation. A trifling percentage of cancer is hereditary. This may also be called inherited cancer syndrome.

Differences between tests performed on a tumor and on a blood and saliva specimens

Genetic testing performed on a tumor specimen is referred to as somatic testing.  This type of test is limited to somatic mutations within the tumor that are not inherited. Somatic or acquired mutations are the most frequent cause of cancer. They occur from damage to genes in an individual cell during a person’s life. Cancers caused by somatic mutations are called sporadic cancers. Somatic mutations are not passed from parent to child.  Carcinogens that cause these mutations include tobacco use, ultraviolet radiation, viruses, chemical exposures, and aging.

Genetic testing looks for the possibility of inherited mutations that may pass down within a family. These tests are usually performed on a saliva or blood sample. This is called germline testing.  Germline mutations are observed less frequently common.   Because the mutation affects reproductive cells, it can pass from generation to generation. 

Cancer caused by germline mutations is called inherited or hereditary cancer. It accounts for about five to ten percent of cancers. More than 50 different hereditary cancer syndromes have been identified that can be passed from one generation to the next. Family and personal histories suggestive of germline mutations include:

  • Early-onset cancer (breast, colon, or endometrial cancer under age 50)
  • Rare cancers (male breast cancer)
  • Specific pathologies (triple-negative breast cancer)
  • More cancers in a family than would be expected by chance

Positive Test Results for Gene Mutation and risks for cancer

If testing results indicate that a gene mutation was found to increase the risk for developing a certain type or type of cancer, it would be called a positive test result that a patient’s family members are at risk for having inherited the mutation.

If a patient has not previously been diagnosed with cancer, they may learn that they have an increased risk for developing a certain type(s) of cancer.  A patient who has previously had cancer may learn that they are at increased risk for developing another cancer. Also, a patient has had cancer; a positive genetic test result may help a physician determine what type of treatment may be the most effective. Research on these types of targeted treatments is ongoing.

Noninvasive Prenatal Testing (NIPT)

Noninvasive prenatal testing (NIPT), which is also called noninvasive prenatal screening (NIPS), is used as one method of determining the risk of fetal genetic abnormalities by analyzing DNA in a pregnant woman’s blood. These free circulating DNA in a woman’s blood while pregnant are called cell-free-DNA (cfDNA).  The national guidelines recommend that pregnant women be offered screening for fetal aneuploidy (referring specifically to trisomy 21, 18, and 13) before 20 weeks of gestation, regardless of age.

One of the focus areas of NIPT testing is Down syndrome (trisomy 21, caused by an extra chromosome 21 but see below for proper ICD-10 coding specificity), trisomy 18 (caused by an extra chromosome 18), trisomy 13 (caused by an extra chromosome 13), and extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes).

There are three high-specificity ICD-10 CM diagnosis codes for trisomy 21:

  1. ICD-10 CM code Q90.0 – Nonmosaicism (meiotic nondisjunction), responsible for most cases of Down Syndrome, occurs when cells don’t properly split during meiosis (cell division) which leaves an extra copy of the chromosome 21 in either sperm or the egg cell, meaning that a future zygote will have three copies of chromosome 2.,
  2. 1 – Mosaicism (mitotic nondisjunction), where only someof the cells in the body have an extra chromosome 21. This form accounts for less than 2% of cases of Down Syndrome.
  3. 2 – Translocation, where part of chromosome 21 becomes attached to another chromosome. Because the extra material is on another cell, the person still has the correct amount of genetic material and will not exhibit Down Syndrome signs.

Genetic test Companies May Use Incorrect Billing Codes to Inflate Insurance Cost

In one case that I reviewed, a company’s genetic screening test offers a ‘product’ that is a panel of tests intended to provide prospective parents a simple way to perform diagnostic testing for potential genetic conditions that parents could pass on to their children.

Modifier 59

There were issues with the claim data that I reviewed.  The first was a questionable use of modifier 59.

  • Use of questionable code modifier. One invoice sent to insurance companies by the genetic testing company appended an additional modifying code to each of the CPT codes. This code was the number 59, which denotes a “distinct procedural service,” according to the Center for Medicaid Studies, and is a code “that is often used incorrectly.”
  • CMS guidance regarding the use of modifier 59 state “documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual.”
  • Therefore modifier 59 is an indication that the genetic testing company was attempting to unbundle its services. According to the expert, appending code 59 to multiple CPT codes tells insurance companies that services not normally reported together were all part of one singular medical procedure.
  • “Modifier 59 is used to identify procedures not normally reported together. If I bill all of these codes together, insurance may be more suspicious of these separate charges. If you add a modifier 59, they are all getting paid. They just know insurance will pay it with modifier 59,” Arrigo said.
  • Abuse of CPT Modifier 59 has been a subject of a past federal investigation. In 2005, the Office of the Inspector General for Health and Human Services published a reporttitled “Use of Modifier 59 to Bypass Medicare’s Correct Coding Initiative Edits.”

Findings Regarding Regulatory Definition of a Panel of Tests vs. Actual Usage

CPT Code for Test Panel

Second, certain tests that are grouped together might be billed using CPT code 81443 – Genetic testing for severe inherited conditions (e.g., cystic fibrosis, Ashkenazi Jewish-associated disorders , beta hemoglobinopathies, phenylketonuria, galactosemia), genomic sequence analysis panel, must include sequencing of at least 15 genes (e.g., ACADM, ARSA, ASPA, ATP7B, BCKDHA, BCKDHB, BLM, CFTR, DHCR7, FANCC, G6PC, GAA, GALT, GBA, GBE1, HBB, HEXA, IKBKAP, MCOLN1, PAH)

CMS Guidance Regarding CPT Coding and Test Panels

The “CPT Manual” defines organ and disease-specific panels of laboratory tests. If a laboratory performs all tests included in one of these panels, the laboratory shall report the panel’s CPT code. Suppose the laboratory repeats 1 of these component tests as a medically reasonable and necessary service on the same date of service. In that case, the CPT code corresponding to the repeat laboratory test may be reported with modifier 91 appended (See Chapter X, Section C (Organ or Disease Oriented Panels).

  1. We conducted a review of CPT coding policies related to panels of tests. Findings:
  • One CPT code could mean one test; therefore, multiple CPT codes need to be billed before the entire medical bill is considered a ‘panel.’
  • One CPT code does not mean one test in all cases; therefore, a single CPT code could be a ‘panel.’
  • It is impossible to know how many tests were actually performed simply from viewing a CPT code

One to One vs. One to Many CPT Code Mapping for Genetic Tests

When reviewing a genetic testing company’s branded product which is a test panel, we mapped associated CPT Codes and found a total of 18 tests and found that

  1. performing a mapping of one CPT code and inferring that it means one genetic sequencing, or one component of a panel was not possible.
  2. This is because some tests had a one-to-one mapping between the test and the CPT code, and some tests had a one-to-many mapping from a single CPT code to multiple tests.
  3. For example, for CFTR (Cystic Fibrosis), multiple CPT codes are listed for CFTR, which is a one-to-one mapping of codes, e.g.:
  1. 81220 – CFTR GENE ANALYSIS COMMON VARIANTS
  2. 81221 – CFTR GENE ANALYSIS KNOWN FAMILIAL VARIANTS
  3. 81222 – CFTR GENE ANALYSIS DUPLICATION/DELETION VARIANTS
  4. 81224 – CFTR GENE ANALYSIS INTRON 8 POLY-T ANALYSIS

 

In contrast, CPT code 81400 – “Molecular pathology procedure, Level 1 (e.g., identification of single germline variant by techniques such as restriction enzyme digestion or melt curve analysis) ACADM (acyl-CoA dehydrogenase, also C-4 to C-12 straight chain, MCAD) (e.g., medium-chain acyl dehydrogenase deficiency), K304E variant ACE (angiotensin-converting enzyme) (e.g., hereditary blood pressure regulation), insertion/deletion variant AGTR1 (angiotensin II receptor, type 1), or (e.g., essential hypertension), 1166A>C variant BCKDHA (branched-chain keto acid dehydrogenase E1, alpha polypeptide) (e.g., maple syrup urine disease, type.”

Maps to all of the following tests:

  1. ACADM (acyl-CoA dehydrogenase, or C-4 to C-12 straight chain, MCAD) (e.g., medium-chain acyl dehydrogenase deficiency), K304E variant
  2. ACE (angiotensin-converting enzyme) (e.g., hereditary blood pressure regulation), insertion/deletion variant
  3. AGTR1 (angiotensin II receptor, type 1) (eg, essential hypertension), 1166A>C variant
  4. BCKDHA (branched-chain keto acid dehydrogenase E1, alpha polypeptide) (e.g., maple syrup urine disease, type 1A), Y438N variant
  5. CCR5 (chemokine C-C motif receptor 5) (eg, HIV resistance), 32-bp deletion mutation/794 825del32 deletion
  6. CLRN1 (clarin 1) (e.g., Usher syndrome, type 3), N48K variant
  7. F2 (coagulation factor 2) (e.g., hereditary hypercoagulability), 1199G>A variant
  8. F5 (coagulation factor V) (e.g., hereditary hypercoagulability), HR2 variant
  9. F7 (coagulation factor VII ) (e.g., hereditary hypercoagulability), R353Q variant
  10. F13B (coagulation factor XIII, B polypeptide) (e.g., hereditary hypercoagulability), V34L variant
  11. FGB (fibrinogen beta chain) (e.g., hereditary ischemic heart disease), -455G>A variant
  12. FGFR1 (fibroblast growth factor receptor 1) (e.g., Pfeiffer syndrome type 1, craniosynostosis), P252R variant
  13. FGFR3 (fibroblast growth factor receptor 3) (e.g., Muenke syndrome), P250R variant
  14. FKTN (fukutin) (e.g., Fukuyama congenital muscular dystrophy), retrotransposon insertion variant
  15. GNE (glucosamine -2-epimerase/N-acetylmannosamine kinase) (eg, inclusion body myopathy 2 , Nonaka myopathy), M712T variant
  16. IVD (isovaleryl-CoA dehydrogenase) (eg, isovaleric acidemia), A282V variant
  17. LCT (lactase-phlorizin hydrolase) (eg, lactose intolerance), 13910 C>T variant
  18. NEB (nebulin) (eg, nemaline myopathy 2), exon 55 deletion variant
  19. PCDH15 (protocadherin-related 15) (eg, Usher syndrome type 1F), R245X variant
  20. SERPINE1 (serpine peptidase inhibitor clade E, member 1, plasminogen activator inhibitor -1, PAI-1) (eg, thrombophilia), 4G variant
  21. SHOC2 (soc-2 suppressor of clear homolog) (e.g., Noonan-like syndrome with loose anagen hair), S2G variant
  22. SRY (sex-determining region Y) (e.g., 46,XX testicular disorder of sex development, gonadal dysgenesis), gene analysis
  23. TOR1A (torsin family 1, member A ) (eg, early-onset primary dystonia ), 907_909delGAG (904_906delGAG) variant

Genetic test billing expert witness for Fraud, Waste, and Abuse Detection

Because of the intricacy of genetic testing and the one-to-many mapping of a single CPT code to a variety of test on a panel, detecting fraud, waste, and abuse requires analytics to detect patterns and chart reviews of patients to see if the clinical documentation supports medically necessary genetic testing.
Fraud Waste and Abuse increase the cost of care and can reduce access to genetic testing for those who need it.

  • The impact on product pricing due to insurers’ inability to access genetic testing efficacy results are not quantified. Genetic testing mortality and morbidity outcomes may be impacted.  They may influence lapse rates. For example, someone receiving favorable genetic test results may be more reassured and allow a policy to lapse, while someone receiving concerning results may be more motivated to keep their policy in force, thus negatively impacting the overall mortality expectations of the remaining risk pool.  Therefore, there are uncertainties in consumer behavior, and impact on mortality and morbidity outcomes.”
  • “Research conducted in 2011 found that the effect of restricting the use of genetic test results in underwriting would be about a 1% to 3% increase in premiums. However, only six genetic disorders were included in that analysis.  A more recent report (2014) from the Canadian Institute of Actuaries, which examined 13 impairments with a known genetic marker, found that banning the use of genetic test results in underwriting could increase average mortality rates by 35% for males and 60% for females.  The same author, in a 2016 report, demonstrated that a ban on using genetic information in critical illness underwriting would result in a 26% increase in the average CI claims rate (+16% for males and +41% for females),40and could necessitate an increase in CI premium rates.”

 

Related Articles

Prophylactic Oophorectomy: Reducing the U.S. Death Rate from Epithelial Ovarian Cancer. A Continuing Debate.

Piver MS. Piver MS. Oncologist. 1996;1(5):326-330. Oncologist. 1996. PMID: 10388011 Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.

Katapodi MC, Viassolo V, Caiata-Zufferey M, Nikolaidis C, Bührer-Landolt R, Buerki N, Graffeo R, Horváth HC, Kurzeder C, Rabaglio M, Scharfe M, Urech C, Erlanger TE, Probst-Hensch N, Heinimann K, Heinzelmann-Schwarz V, Pagani O, Chappuis PO. Katapodi MC, et al. JMIR Res Protoc. 2017 Sep 20;6(9):e184. doi: 10.2196/resprot.8138. JMIR Res Protoc. 2017. PMID: 28931501 Free PMC article.

Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases.

George R, Kovak K, Cox SL. George R, et al. J Genet Couns. 2015 Jun;24(3):388-99. doi: 10.1007/s10897-014-9805-5. Epub 2015 Jan 11. J Genet Couns. 2015. PMID: 25577298 Evidence Brief: The Quality of Care Provided by Advanced Practice Nurses.

McCleery E, Christensen V, Peterson K, Humphrey L, Helfand M. McCleery E, et al. 2014 Sep. In: V.A. Evidence Synthesis Program Evidence Briefs . Washington (D.C.): Department of Veterans Affairs (U.S.); 2011–. V.A. Evidence Synthesis Program Evidence Briefs. 2011–. PMID: 27606392 Free Books & Documents. Review.

Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework.

Green RF, Ari M, Kolor K, Dotson WD, Bowen S, Habarta N, Rodriguez JL, Richardson LC, Khoury MJ. Green R.F., et al. Genet Med. 2019 Jan;21(1):28-37. doi: 10.1038/s41436-018-0028-2. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907802 Free PMC article. Review.

References

Institute of Medicine, Committee for the Study of the Future of Public Health. The Future of Public Health. National Academy Press; Washington, DC, USA: 1988.

Modell S.M., Kardia S.L.R., Citrin T. Stakeholder consultation insights on the future of genomics at the clinical-public health interface. Transl. Res. 2014;163:466–477. doi: 10.1016/j.trsl.2013.12.007. – DOI PubMed

Bowen M.S., Kolor K., Dotson W.D., Ned R.M., Khoury M.J. Public health action in genomics is now needed beyond newborn screening. Public Health Genet. 2012;15:327–334. doi: 10.1159/000341889. – DOI PMC PubMed

George R., Kovak K., Cox S.L. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J. Genet. Couns. 2015;24:388–399. doi: 10.1007/s10897-014-9805-5. – DOI PubMed

Centers for Disease Control and Prevention, Office of Public Health Genomics Genomic Tests and Family Health History by Levels of Evidence: Tier 1. Available online: https://www.cdc.gov/genomics/gtesting/

Citations

Medical interventions measures to improve health or alter the course of an illness and can be used to prevent, diagnose, and treat disease.

2019. Kathryn A. Phillips  Patricia A. Deverka The Emerging Use By Commercial Payers Of Third-Party Lab Benefit Managers For Genetic Testing

https://www.healthaffairs.org/do/10.1377/hblog20191021.563154/full/

2013. The Landscape of Inappropriate Laboratory Testing: A 15-Year Meta-Analysis

Ming Zhi, Eric L. Ding, Jesse Theisen-Toupal, Julia Whelan, Ramy Arnaout

Published: November 15, 2013 https://doi.org/10.1371/journal.pone.0078962

Kotze, M. J., & van Rensburg, S. J. (2012). Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer’s disease. Metabolic brain disease27(3), 255–266. https://doi.org/10.1007/s11011-012-9296-8

Phillips, K. A., Deverka, P. A., Hooker, G. W., & Douglas, M. P. (2018). Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?. Health affairs (Project Hope)37(5), 710–716. https://doi.org/10.1377/hlthaff.2017.1427

Often referred to as multianalyte assays with algorithmic analyses (MAAAs), these tests combine results from two or more biochemical or molecular markers, along with patient demographics and clinical information, into an algorithm to generate diagnostic, prognostic, or predictive information for a disease.

Genetic Testing Fact Sheet – National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

A gene change in a body’s reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. Germline mutations are passed on from parents to offspring. Also called germline variant.  Source: National Cancer Institute.

A type of inherited disorder in which there is a higher-than-normal risk of certain types of cancer. Inherited cancer syndromes are caused by mutations (changes) in certain genes passed from parents to children. In an inherited cancer syndrome, certain patterns of cancer may be seen within families. These patterns include having several close family members (such as a mother, daughter, and sister) with the same type of cancer, developing cancer at an early age, or having two or more types of cancer develop in the same person. Examples of inherited cancer syndromes are hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome. Also called family cancer syndrome and hereditary cancer syndrome.  Source: National Cancer Institute.

Having to do with the body. Source: Cancer.gov, National Cancer Institute

Somatic mutations are an alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases. Source: Cancer.gov, National Cancer Institute

Oncology nursing society.  Germline and Somatic Mutations: What Is the Difference?

Id.

Id.

Source: cancer.net

What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?  Medline Plus

Ashoor G, Syngelaki A, Poon LC et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013; 41(1):26-32

What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?  Medline Plus

See CMS Guidance, Chapter pertaining to coding policies.

https://www.cms.gov/files/document/chapter1generalcorrectcodingpoliciesfinal112021.pdf

Genetic Testing Medical Policy – Genetics. http://www.bcbstx.com/provider/pdf/genetic_testing_form.pdf

Genetic Testing Medical Policy – Genetics. http://www.bcbstx.com/provider/pdf/genetic_testing_form.pdf

Reinsurance Group of America.  Genetics and Insurance: Challenges and Opportunities II
https://rgare.com/knowledge-center/media/research/genetics-and-insurance-challenges-and-opportunities-ii

Reinsurance Group of America.  Genetics and Insurance: Challenges and Opportunities II
https://rgare.com/knowledge-center/media/research/genetics-and-insurance-challenges-and-opportunities-ii

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See also

Ethical Issues Regarding Insurance Coverage and Reimbursement of Genetic Tests and Services

Federal Privacy, Ethics, and Anti-Discrimination Rules Regarding Genetic Tests

State Privacy, Ethics, and Anti-Discrimination Rules Regarding Genetic Tests

Accuracy, Avoiding Patient Identification Errors in Genetic Test Results

HIPAA and CLIA Accuracy Standards

Esoteric tests

Michael F Arrigo in the news

See ECRI.org web site, About ECRI and ECRI timeline since founding in 1968 https://www.ecri.org/about/ecri-history-trusted-voice-healthcare