Genomic Health Screen
Comprehensive screening program with genomic screening and relevant consultation/counseling
Turnaround time is 6-12 weeks.
Who is this test for?
Adults (i.e., individuals >18 years of age) who are requesting a Genomic Health Screen to inform their health and well-being as well as to guide prospective preventative health surveillance and management. If, during evaluation, the individual is found to have clinical findings suggestive of a genetic condition, then diagnostic testing will be offered in conjunction with the Genomic Health Screen. Individuals will need to implement appropriate management and surveillance arising from the genomic findings through their physician. This product is only available by private pay.
Basic Health Screen
The test includes comprehensive genome analyses. Only pathogenic and likely pathogenic variants are reported; that is, variants of uncertain clinical significance as well as likely benign and benign variants are not reported.
The report provides comprehensive risk assessment for three groups of monogenic (single-gene) predispositions:
- Those for which there are consensus guidelines for surveillance and management. The monogenic predispositions reported are the medically actionable disorders defined by the American College of Medical Genetics and Genomics (see Appendix 1). This is presently 81 genes.
- Those for which there are prescribing guidelines. The 15 pharmacogenetic variants reported are those that impact commonly prescribed medications (see Appendix 2).
- Those for which there are risks to offspring if the parents are carriers. The 1,300 genes reported follow the principles promulgated by Mackenzie’s Mission (see Appendix 3).
Pre-Test Consultation
- Review relevant patient medical and family history provided by individual and/or health care professional
- Design testing to meet any diagnostic requirements
Post-Test Consultation
Review and discuss genomic findings with medical actionability in the context of current understanding and consensus best practices for management, surveillance, and therapy.
Premium Genomic Health Screen
This offering includes the basic Health Genomic Screen (year 1) and then extends over a five-year period. With each year the genomic data is updated based on medical and technical advances which can include further testing, variant re-interpretation, and consultation/counseling.
Reports are updated every year to include new medically actionable disorders, newly classified pathogenic and likely pathogenic variants relevant to medically actionable disorders or carrier status, additional relevant pharmacological variants, and relevant (i.e., with consensus guidelines) polygenic and epigenetic risks.
Please contact us at orders@alamyahealth.com for more information and test ordering.