Personal Health and Disease Risk

Personal Health and Disease Risk Screen

According to reports from The Center for Disease and Control and Prevention, cardiac diseases and cancers have been consistently ranked as the top two causes of death in the United States for the past decade[1]. In addition, adverse drug reaction occurs in more than 2 million patients each year in US, resulting in about 100,000 tragic deaths that could have been avoided[4, 5]. An increase utilization of genetic testing may substantially reduce the cost of human life and economic stress from these diseases[3].

The iGene Personal Health and Disease Risk Panel provides an accurate assessment of one’s personal health risks in cardiac diseases, major cancer syndromes, and potential pharmacogenetic reactions to a host of common medications. It provides actionable genetic information to health professionals in determining an individual’s clinical management options. Assessment is based on the most up-to-date clinical research data, the patient’s personal medical history, and genetic testing results.

  • The iGene Personal Health and Disease Risk Panel can be ordered as one comprehensive panel, or individually as three separate panels.

  • Individuals who are affected by or have a family history of cancer(s) affected by or have family history of cardiac diseases, or who have experienced adverse drug reaction.
  • Individuals who are concerned about their own genetic risks and are interested in learning about their health risk for these diseases. These individuals are encouraged to consult with their healthcare professionals about ordering a test.

About The iGene Personal Health and Disease Risk Panel

The iGene Personal Health and Disease Risk Panel provides an invaluable health assessment to individuals in understanding their hereditary risks and preventative options in three actionable health areas that most critically shape the disease forecast of today.

Cancer is a multifactorial disease with marked genetic etiologies. Germline mutations in high penetrance genes such as BRCA1 and BRCA2, TP53, and PTEN are associated with multiple cancer syndromes. As each cancer site is often associated with multiple genes and hereditary cancer syndromes, an extensive test screening multiple associated high-penetrance genes serves as a powerful tool for determining a patient’s health management, especially when the patient has an extensive family history of cancers.

Many cardiac diseases have multifactorial causes. Researches have suggested that genetic predispositions play an important role in the etiology of cardiac diseases in humans. Mutations in a single gene may be associated with several clinical presentations, and mutations in different genes may attribute to similar phenotypes. Next generation sequencing technology is a powerful approach to better evaluate the genetic heterogeneity of cardiac diseases.

Pharmacogenetics is the study of how an individual’s genetic makeup affects one’s drug interaction and metabolism. A pharmocogenetic test can predict how efficiently a patient can metabolize a drug, allowing clinicians to adjust dosages for the patient in order to achieve maximal efficacy from a drug with minimal side effects. Pharmacogenetics testing adds genetic information to the usual profiling of the patient’s age, weight, use of other medications, lifestyle, stage of disease, and environment.

Variant Classification

Sequencing results will be interpreted and reported following recommendations of the American College of Medical Genetics ( Sequence variations will be analyzed and classified into the following categories based on current scientific knowledge. Variants found in categories 1-3 (pathogenic, likely pathogenic, and variants of unknown clinical significance) will be reported.

  1. Pathogenic: Pathogenic variants include nonsense mutations and frameshift mutations that are predicted to result in premature protein truncation, splice site mutations, and previously reported missense mutations that are recognized as disease-causing by databases and scientific literatures.
  2. Likely Pathogenic: Likely pathogenic variants are those variants that likely adversely affect the gene function, but without conclusive evidence to strongly support pathogenicity.
  3. Variant of Unknown Clinical Significance (VUS): VUSs are sequence variations without sufficient evidence to either confirm or exclude pathogenicity.
  4. Likely Benign: Likely benign variants are variations for which there are significant, but not conclusive, evidence supporting that the variant is not disease-causing.
  5. Negative: A negative classification is reported when no disease-causing variant is found or is classified as a benign polymorphism based on the population data, or of no clinical significance based on review of the literature, mutation database.

Testing Methodology

Genomic DNA is extracted from the patient’s specimen and fragmented via sonication. All of the exons, flanking intronic (at least 10 nucleotide into the introns), and untranslated regions (5’ and 3’) of the targeted genes are enriched using capture-based hybridization. Massively parallel sequencing is applied to the enriched target DNA regions to detect mutation. The region <10-fold coverage is regarded as low coverage region and will be rescued by Sanger Sequencing. Variants with an allele frequency > 1% are considered likely benign polymorphisms, and are not included in the final report. Interpretation of rare alterations with allele frequency <1% is based on ACMG guidelines. All pathogenic and likely pathogenic variants are verified by Sanger Sequencing.

Massive parallel sequencing can reliably detect insertion/deletion mutations smaller than 10 base pair. However, larger insertion, deletion, duplication due to rearrangement, and mutations in regulatory and deep intronic regions cannot be detected by this technology. Rare primer site variants may lead to erroneous results that may need further investigation.


  1. “Leading Causes of Death”, Cancers for Disease Control and Prevention.
  2. Eyre, H., et al., Preventing cancer, cardiovascular disease, and diabetes: a common agenda for the American Cancer Society, the American Diabetes Association, and the American Heart Association.Circulation, 2004.109(25): p. 3244-55.
  3. Need, A.C., A.G. Motulsky, and D.B. Goldstein, Priorities and standards in pharmacogenetic research. Nat Genet, 2005. 37(7): p. 671-81.
  4. Sadee, W. and Z. Dai, Pharmacogenetics/genomics and personalized medicine. Hum Mol Genet, 2005. 14 Spec No. 2: p. R207-14.

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