The practice of medical genetics is changing. Advances in technology, growing awareness, and accumulating evidence are accelerating applications of genetic testing throughout clinical medicine. There are well-established clinical indications for genetic testing in the pediatric population that extend to the adult population which provide important clinical insights into the natural history of many recently characterized genetic conditions.

There are more than 10,000 distinct genetic conditions affecting around 5% of the general population. Roughly 50% are inherited and 50% due to randomly acquired genetic changes, early in embryonic development (de novo). Their clinical presentations define the spectrum of human genetic and phenotypic variation. Differentiating congenital versus acquired causes of diseases is a significant consideration throughout patient care and in particular, in establishing indications for genetic testing.

The role of genetic testing throughout clinical medicine is rapidly evolving. Established indications with high diagnostic yields include:

• Established or suspected family history of genetic disorders
• Congenital anatomical anomalies
• Neurodevelopmental delay and intellectual disability
• Congenital or acquired movement disorders
• NICU and Neonatal genetic evaluations

Other clinical circumstances associated with genetic involvement include:

• Non-response to standard treatments or therapies
• Remarkable clinical presentations, progression, or pathology
• Complex or multisystem disease

The outlook for therapies is highly dependent on the condition and advances in cellular and genetic therapies offer the brightest prospects for stabilization and even reversal of disease.

SequenceMD Sees Patients with Rare Conditions with Unique and Unmet Medical Needs

• Adults and children with a personal or family history of inherited genetic conditions
• Adults and children with undiagnosed, misdiagnosed, or unrecognized rare genetic conditions seeking diagnostic clarity
• Families or persons seeking knowledge on their reproductive and other health risks
• Persons with a history of negative non-diagnostic genetic testing

SequenceMD Relies on a Diverse Referral Network Across Specialties, Providers, and Conditions

SequenceMD Implements Genetics-Specific Quality Measures with Patient-Centered Outcomes

• Comprehensive medical, family, and social history
• Complete physical exam and neurocognitive screen
• Critical review of specialty consults, previous tests, and historic diagnoses

SequenceMD Utilizes an Efficient Testing Strategy

• Whole genome and whole exome sequencing offer superior sensitivity for detecting the vast diversity of genetic changes that are associated with the more than 10,000 unique genetic conditions and disorders
• Whole genome and whole exome sequencing may produce any combination of positive (diagnostic), negative, uncertain, secondary, or incidental results
• SequenceMD utilizes multiple CLIA-certified genetic testing laboratories for whole genome and whole exome sequencing and will also perform the necessary insurance benefits investigations
• SequenceMD orders, coordinates, and clinically-correlates results of whole genome, whole exome sequencing, and/or panel testing
• Negative whole genome and whole exome sequencing results may offer reassurance for some patients and families
• Periodic reanalysis and/or reinterpretation of whole genome and whole exome sequencing data and/or results is an increasingly recognized as an important quality measure, regardless of the results

SequenceMD Offers Genetic Counseling for New and Established Patients:

• Genetic risk assessment for confirmed or suspected inherited and rare genetic disorders
• Individualized informed consent process that explores the relevant risks, benefits, alternatives, limitations of genome sequencing
• Patient communication, test coordination, and ongoing follow-up throughout the process

SequenceMD Provides Medical Recommendations for Providers Caring for Patients with Established Genetic Diagnoses:

• Review of the natural history, clinical presentation, and medical management of the patient’s genetic disorder
• Specific type, indication, and frequency of monitoring or surveillance tests
• Specific indications and frequency of specialty consultations
• Continuing patient care with annual follow-up
• Clinical support for specialty and primary care providers

Speciality Hand-Off for Specific (Treatable) Diagnoses

• Metabolic Clinic at Children’s Hospital of Colorado for patients diagnosed with certain genetic or metabolic disorders
• Recommendations may also be based on patient, provider, or payer preferences