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PrecisionHealth Genetic Report

Member
Name: Jane Doe
Member ID: 1234
Sex at Birth: Female
Date of Birth: 12/12/2000

Provider
Name: Dr. Smith
Address: 100 Burdell Dr, Atlanta, GA

Sample Collection
Specimen ID: 3456
Specimen Type: Saliva
Amount: >2mL
Collection Tube: DNA Genotek Oragene•DNA (OG-600)
Collected: 6/24/2024

Sequencing
Test ID: 78910
Test Type: WES
Depth: 100x
Quality: Satisfactory
Sequenced: 9/30/2024

Executive Summary - General Genetic Predisposition Report

Whole Exome Sequencing - Research Results

Mendelian Disorder Predictions

We did not predict any Mendelian Disorder associations.

Key Results

  • Predisposition to Diseases: The user has been predicted to have a predisposition for 46 diseases. Further steps may include more detailed risk assessments for specific conditions.
  • Carrier Status: The presence of certain genetic variants indicates the possibility of being a carrier for genetic conditions. It is recommended to request a Carrier Report for a detailed analysis of any hereditary conditions.
  • Treatment Recommendations: Based on the genetic findings, a personalized treatment approach may be beneficial. It is suggested to request a Treatment Report to guide medication and therapy options.
  • Next Steps: Schedule a consultation with your healthcare provider to review your results and to discuss the Carrier Report and Treatment Report, which will offer deeper insights into the genetic risks and potential treatment paths.

Please note: This is a sample report with sample data.

*Disclaimers: This report is intended for research use only and is not diagnostic. Please consult with a healthcare provider for diagnoses and next steps.

**Provider recommendation: Please consult a genetic counselor or healthcare provider for next steps. If you do not have a healthcare provider, GeneHealth can assist with matching you to one.

***Treatment explanation: We provide recommendations for compassionate use drugs in cases where traditional treatment options have been exhausted. Treatments are to be discussed with your healthcare provider.

Explore Genetic Insights

Summary

Diseases Found 46
High Risk 1
Medium Risk 43
Low Risk 2
Mutated Genes Found 21

Contents

Autoimmune Disorders :

The following diseases are associated with Autoimmune Disorders ::

Disease Predisposition
Immune System Diseases Medium
Autoimmune Diseases Medium
Connective Tissue Diseases Low
Demyelinating Autoimmune Diseases, Cns Low

Immune System Diseases

Immune system diseases can broadly be categorized into two types: autoimmune diseases and immunodeficiency diseases. The type of genetic transmission for these diseases can vary: 1. **Autoimmune Diseases**: These are often multifactorial, involving a combination of genetic predisposition and environmental factors. Specific autoimmune diseases can have different patterns of inheritance, including: - **Polygenic Inheritance**: Involves multiple genes (e.g., Type 1 Diabetes, Rheumatoid Arthritis). - **Monogenic Inheritance**: Involves a single gene (less common, e.g., Autoimmune Lymphoproliferative Syndrome). 2. **Immunodeficiency Diseases**: These are often caused by single-gene mutations and can follow various patterns of genetic transmission: - **Autosomal Recessive**: Both copies of the gene must be mutated (e.g., Severe Combined Immunodeficiency [SCID]). - **Autosomal Dominant**: Only one copy of the gene needs to be mutated (e.g., Hyper-IgE Syndrome). - **X-Linked Recessive**: The gene causing the disease is located on the X chromosome (e.g., X-Linked Agammaglobulinemia). Each immune system disease can have a specific genetic transmission pattern that influences its inheritance and manifestation.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
SLC12A7 Duplication C/T Medium
ANK2 Frameshift A/C Medium
ZFYVE9 Insertion T/C Medium
FOXD4 Substitution A/A High
ACAD9-DT Inversion G/A Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
SLC12A7 16%
ANK2 10%
ZFYVE9 21%
FOXD4 6%
ACAD9-DT 8%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 NF-kappa B Signaling Pathway Involved in cell growth and survival
REACT:R-HSA-74160 Cholinergic Pathway Impacts cellular stress response
REACT:R-HSA-76002 PI3K-Akt Signaling Pathway Involved in cell growth and survival
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
SLC12A7 Stroke Mitochondrial impairment
ANK2 Depression Genetic predisposition
ZFYVE9 Coronary Artery Disease Hormonal imbalance
FOXD4 Chronic Obstructive Pulmonary Disease (COPD) Inflammation
ACAD9-DT Depression Immune system dysfunction

Recommendations for Medium Risk for Immune System Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for immune system diseases.

Next Steps

Learn more about Immune System Disease.

See predicted treatments for immune system diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Autoimmune Diseases

Uterine diseases encompass various conditions, including: 1. Uterine fibroids: Benign tumors composed of smooth muscle and fibrous tissue. 2. Endometriosis: Growth of endometrial tissue outside the uterus. 3. Uterine cancer (e.g., endometrial carcinoma): Malignancy in the lining of the uterus. 4. Adenomyosis: Endometrial tissue growing into the uterine muscle. Type of genetic transmission: Most uterine diseases do not follow a simple Mendelian pattern of inheritance. However, there may be genetic predispositions influenced by multiple genetic and environmental factors. For example, uterine fibroids and endometriosis have shown familial clustering, suggesting a hereditary component. Uterine cancer may also have a genetic basis, particularly when associated with hereditary cancer syndromes like Lynch syndrome.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
PUM3 Insertion T/A High
ANK2 Inversion G/A High
MRPL36 Insertion A/G Medium
GSTM4 Deletion T/C Medium
TMEM45A Inversion C/G High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
PUM3 4%
ANK2 22%
MRPL36 17%
GSTM4 19%
TMEM45A 7%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 Glutamatergic Transmission Involved in cell growth and survival
REACT:R-HSA-76002 Glutamatergic Transmission Regulates neurotransmitter release
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
PUM3 Chronic Obstructive Pulmonary Disease (COPD) Mitochondrial impairment
ANK2 Asthma Neurodegeneration
MRPL36 Cancer Mitochondrial impairment
GSTM4 Chronic Obstructive Pulmonary Disease (COPD) Cellular apoptosis
TMEM45A Depression Genetic predisposition

Recommendations for Medium Risk for Uterine Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for Autoimmune Diseases.

Next Steps

Learn more about Uterine Disease.

See predicted treatments for Autoimmune Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Connective Tissue Diseases

Mixed connective tissue disease is an autoimmune disorder. It is not typically considered to have a direct genetic transmission; rather, it is believed to result from a combination of genetic predisposition and environmental factors.

Predisposition: Low
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
ZDHHC11 Inversion T/C Medium
ZNF518B Deletion T/G Medium
GSTM4 Insertion T/T Medium
PUM3 Insertion A/T High
GTPBP8 Insertion T/G High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
ZDHHC11 1%
ZNF518B 16%
GSTM4 4%
PUM3 9%
GTPBP8 4%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 mTOR Signaling Pathway Controls cell differentiation
REACT:R-HSA-76002 Dopaminergic Signaling Modulates metabolism and energy use
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
ZDHHC11 Diabetes Cellular apoptosis
ZNF518B Osteoporosis Hormonal imbalance
GSTM4 Osteoporosis Metabolic dysregulation
PUM3 Depression Hormonal imbalance
GTPBP8 Asthma Oxidative stress

Recommendations for Low Risk for Mixed Connective Tissue Disease

  • Consultation: Consider discussing results with a healthcare provider for general awareness.
  • Health Maintenance: Focus on maintaining overall health and well-being.
  • Personalized Lifestyle Plan:
    • Eat a diverse diet emphasizing fruits, vegetables, and whole grains.
    • Engage in consistent, low-impact physical activity like walking or gardening.
    • Prioritize sleep hygiene and ensure adequate rest.
    • Minimize exposure to environmental toxins and avoid smoking.

    For general wellness recommendations: Explore recommendations for Connective Tissue Diseases.

Next Steps

Learn more about Mixed Connective Tissue Disease.

See predicted treatments for Connective Tissue Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Demyelinating Autoimmune Diseases, Cns

Demyelinating diseases generally refer to a group of disorders characterized by damage to the myelin sheath of neurons. Some common types include Multiple Sclerosis (MS), Neuromyelitis Optica (NMO), and Acute Disseminated Encephalomyelitis (ADEM). Type of genetic transmission: The genetic component varies by specific demyelinating disease. For example, Multiple Sclerosis is considered to have a complex multifactorial genetic basis, meaning that it is influenced by multiple genetic and environmental factors rather than following a simple Mendelian inheritance pattern.

Predisposition: Low
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
PHACTR2 Frameshift C/A High
TMEM45A Inversion C/T High
FOXD4 Inversion G/T Medium
MROH2B Frameshift C/C Medium
ANK2 Frameshift G/C Medium
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
PHACTR2 3%
TMEM45A 6%
FOXD4 19%
MROH2B 15%
ANK2 16%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-6805567 GABAergic Signaling Impacts cellular stress response
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
PHACTR2 Coronary Artery Disease Neurodegeneration
TMEM45A Hypertension Inflammation
FOXD4 Hypertension Immune system dysfunction
MROH2B Asthma Oxidative stress
ANK2 Hypertension Metabolic dysregulation

Recommendations for Low Risk for Demyelinating Disease

  • Consultation: Consider discussing results with a healthcare provider for general awareness.
  • Health Maintenance: Focus on maintaining overall health and well-being.
  • Personalized Lifestyle Plan:
    • Eat a diverse diet emphasizing fruits, vegetables, and whole grains.
    • Engage in consistent, low-impact physical activity like walking or gardening.
    • Prioritize sleep hygiene and ensure adequate rest.
    • Minimize exposure to environmental toxins and avoid smoking.

    For general wellness recommendations: Explore recommendations for demyelinating autoimmune diseases, cns.

Next Steps

Learn more about Demyelinating Disease.

See predicted treatments for demyelinating autoimmune diseases, cns.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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