DetoxiGenomic Profile evaluates over 20 SNPs related to phase 1 and phase 2 detoxification pathways. These SNPS are associated with increased risk of impaired detoxification capacity especially when exposed to environmental toxins. It also identifies individuals potentially susceptible to adverse drug reactions.
The Detoxigenomic Profile by Genova Diagnostics includes a range of SNPs to assess detoxification capacity.
The Detoxigenomic Profile assesses variations in genes called SNPs. SNP stands for Single Nucleotide Polymorphism. It is a common type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered at a specific position within the genome.
SNPs are the most frequent type of genetic variation among individuals and can occur throughout the genome. They can influence various traits, including susceptibility to diseases, response to medications, detoxification and other phenotypic characteristics.
Phase 1 Detoxification SNPs assessed:
Methylation SNPs assessed:
Acetylation SNPs assessed:
Slow Metabolizer Polymorphism:
Fast Metabolizer Polymorphism:
Glutathione Conjugation:
Oxidative Protection:
The DetoxiGenomic® Profile assesses specific SNPs linked to heightened susceptibility to impaired detoxification, particularly in the presence of environmental toxins. Additionally, it pinpoints individuals who may be at risk of adverse reactions to certain medications.
During Phase I detoxification, a group of enzymes referred to as the cytochrome P-450 system employs oxygen to alter toxic substances, medications, or steroid hormones. Following the formation of a reactive site, numerous toxins require Phase II detoxification.
Given the diverse range of toxic compounds the body may come across, there exists a variety of Phase I enzyme variants. The Detoxigenomic Profile identifies these variants and discusses the implications of an individual’s genetic results to their phase 1 detoxification capacity and provides potentially beneficial therapies.
During Phase II detoxification, toxins typically undergo the addition of large water-soluble molecules, typically at the reactive sites created by Phase I reactions. Following Phase II modifications, the body can expel the altered toxins through urine or feces (via bile).
Results are presented first in a chart demonstrating an individual’s genetic results for each SNP identified above.
Following that, an in-depth discussion is provided for SNPs that demonstrated impaired capacity and/or that have known health implications.
It is important to understand that these results should be interpreted in the context of an individual’s health history.
The DetoxiGenomic Profile by Genova Diagnostics may benefit the following groups:
Patients with chronic and/or treatment-resistant conditions: SNP testing to uncover underlying genetic factors influencing detoxification pathways, potentially aiding in personalized treatment approaches. [4., 6., 11.]
Individuals with a family history of cardiovascular disease, mood disorders, Alzheimer’s, cancer, or autoimmune disease: understanding their genetic predispositions may allow for early intervention and tailored prevention strategies. [1.,12.]
Those suffering from inflammatory conditions: these individuals may find value in SNP testing to identify genetic variations affecting detoxification processes, potentially guiding targeted therapeutic interventions aimed at reducing inflammation. [1., 12., 15.]
Patients with cardiovascular disease: these patients can benefit from the DetoxiGenomic Profile to assess genetic factors contributing to toxin metabolism, which may play a role in cardiovascular health and treatment outcomes. [1., 12., 15.]
Individuals with mood disorders: SNP testing may uncover genetic susceptibilities to toxin accumulation and neurotransmitter balance, potentially informing treatment strategies aimed at addressing underlying biochemical imbalances.
SNP testing may also help inform appropriate medication choices. [3., 10., 14.]
Those with osteoporosis: these patients may find value in understanding genetic influences on detoxification pathways, potentially contributing to personalized approaches for bone health management. [7.]
Patients with metabolic disorders such as insulin resistance: SNP testing may identify genetic variations impacting detoxification pathways relevant to metabolic health. [1., 15.]
Individuals with chemical sensitivity: these patients may find value in SNP testing to elucidate genetic factors contributing to detoxification capacity, potentially informing strategies to minimize exposure and manage symptoms. [1., 12., 15.]
Those with asthma and lung problems: understanding genetic susceptibilities to toxin exposure may guide interventions aimed at reducing exacerbations and improving respiratory health. [1., 12.]
Individuals experiencing cognitive decline: these individuals may benefit from SNP testing to identify genetic factors influencing detoxification pathways relevant to brain health, potentially informing personalized interventions aimed at preserving cognitive function. [1., 12.]
This test requires a cheek swab. Click here for full collection and shipping instructions.
Click here for a sample collection video.
[1.] Aronica L, Ordovas JM, Volkov A, Lamb JJ, Stone PM, Minich D, Leary M, Class M, Metti D, Larson IA, et al. Genetic Biomarkers of Metabolic Detoxification for Personalized Lifestyle Medicine. Nutrients. 2022; 14(4):768. https://doi.org/10.3390/nu14040768
[2.] Austin-Zimmerman I, Wronska M, Wang B, Irizar H, Thygesen JH, Bhat A, Denaxas S, Fatemifar G, Finan C, Harju-Seppänen J, Giannakopoulou O, Kuchenbaecker K, Zartaloudi E, McQuillin A, Bramon E. The Influence of CYP2D6 and CYP2C19 Genetic Variation on Diabetes Mellitus Risk in People Taking Antidepressants and Antipsychotics. Genes (Basel). 2021 Nov 3;12(11):1758. doi: 10.3390/genes12111758. PMID: 34828364; PMCID: PMC8620997.
[3.] Caudle KE, Gammal RS, Whirl-Carrillo M, Hoffman JM, Relling MV, Klein TE. Evidence and resources to implement pharmacogenetic knowledge for precision medicine. Am J Health Syst Pharm. 2016 Dec 1;73(23):1977-1985. doi: 10.2146/ajhp150977. PMID: 27864205; PMCID: PMC5117674.
[4.] Crews KR, Hicks JK, Pui CH, Relling MV, Evans WE. Pharmacogenomics and individualized medicine: translating science into practice. Clin Pharmacol Ther. 2012 Oct;92(4):467-75. doi: 10.1038/clpt.2012.120. Epub 2012 Sep 5. PMID: 22948889; PMCID: PMC3589526.
[5.] Dean L. Warfarin Therapy and VKORC1 and CYP Genotype. 2012 Mar 8 [Updated 2018 Jun 11]. In: Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84174/
[6.] Dunnenberger HM, Crews KR, Hoffman JM, Caudle KE, Broeckel U, Howard SC, Hunkler RJ, Klein TE, Evans WE, Relling MV. Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu Rev Pharmacol Toxicol. 2015;55:89-106. doi: 10.1146/annurev-pharmtox-010814-124835. Epub 2014 Oct 2. PMID: 25292429; PMCID: PMC4607278.
[7.] Guo L, Han J, Guo H, Lv D, Wang Y. Pathway and network analysis of genes related to osteoporosis. Mol Med Rep. 2019 Aug;20(2):985-994. doi: 10.3892/mmr.2019.10353. Epub 2019 Jun 6. PMID: 31173222; PMCID: PMC6625186.
[8.] Hicks JK, Bishop JR, Sangkuhl K, Müller DJ, Ji Y, Leckband SG, Leeder JS, Graham RL, Chiulli DL, LLerena A, Skaar TC, Scott SA, Stingl JC, Klein TE, Caudle KE, Gaedigk A; Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clin Pharmacol Ther. 2015 Aug;98(2):127-34. doi: 10.1002/cpt.147. Epub 2015 Jun 29. PMID: 25974703; PMCID: PMC4512908.
[9.] Hippman C, Nislow C. Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges. J Pers Med. 2019 Aug 7;9(3):40. doi: 10.3390/jpm9030040. PMID: 31394823; PMCID: PMC6789586.
[10.] Keogh M, Fragala MS, Peter AP, Lorenz RA, Goldberg SE, Shaman JA. Early Insights From a Pharmacogenomic-Enriched Comprehensive Medication Management Program Implementation in an Adult Employee Population. J Occup Environ Med. 2022 Dec 1;64(12):e818-e822. doi: 10.1097/JOM.0000000000002705. Epub 2022 Sep 22. PMID: 36155954; PMCID: PMC9722373.
[11.] Mrazek DA. Psychiatric pharmacogenomic testing in clinical practice. Dialogues Clin Neurosci. 2010;12(1):69-76. doi: 10.31887/DCNS.2010.12.1/dmrazek. PMID: 20373668; PMCID: PMC3181940.
[12.] Norman RE, Carpenter DO, Scott J, Brune MN, Sly PD. Environmental exposures: an underrecognized contribution to noncommunicable diseases. Rev Environ Health. 2013;28(1):59-65. doi: 10.1515/reveh-2012-0033. PMID: 23612529.
[13.] Oates JT, Lopez D. Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application. Int J Biomed Investig. 2018;1(2):111. doi: 10.31531/2581-4745.1000111. Epub 2018 May 27. PMID: 32467882; PMCID: PMC7255432.
[14.] Relling MV, Klein TE. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin Pharmacol Ther. 2011 Mar;89(3):464-7. doi: 10.1038/clpt.2010.279. Epub 2011 Jan 26. PMID: 21270786; PMCID: PMC3098762.
[15.] Silva M, Carvalho M da G. Detoxification enzymes: cellular metabolism and susceptibility to various diseases. Revista da Associação Médica Brasileira. 2018;64(4):307-310. doi:https://doi.org/10.1590/1806-9282.64.04.307
The DetoxiGenomic® Profile uses genomic testing to identify a patient's risk for chemical sensitivities, oxidative stress, and the ability to handle various medications.
Hey Practitioners! 
Ready to become a world class gut health expert? Join Jeannie Gorman, MS, CCN, for a Free Live Class that dives into how popular diets impact the gut microbiome, the clinical dietary needs of your gut, biomarkers to test to analyze gut health, and gain a clear understanding of the Doctor’s Data GI360™ profile. Register here.
.jpg)
