Board-Certified Clinical Genetics

SequenceMD

Advanced Clinical Genetics for Rare Disease

Expert diagnosis, precision genomics, and longitudinal care for patients and families navigating complex genetic conditions.

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FACMGBoard Certified
6Specialty Programs
1000+Disorders Evaluated
9Care Pathways
Patrick Long, MD FACMG
Medical Director

Board-Certified Clinical Geneticist
Fellow, American College of Medical Genetics and Genomics

About SequenceMD

Clinical Genetics
Redefined

SequenceMD was founded on a singular conviction: every patient with a suspected genetic condition deserves access to rigorous, expert-level clinical genetics care. Under the direction of Dr. Patrick Long, MD FACMG, our practice brings the diagnostic depth of an academic medical center to a focused, patient-centered clinical setting.

Dr. Long is a board-certified clinical geneticist and Fellow of the American College of Medical Genetics and Genomics (ACMG). His clinical practice spans the full breadth of medical genetics, with particular expertise in heritable connective tissue disorders, hereditary cancer syndromes, neurogenetic conditions, and the evaluation of patients with undiagnosed disease.

Our Philosophy

We believe that a genetics evaluation should be more than a test result. It should be a comprehensive assessment that integrates your phenotype, family history, and genomic data into a coherent clinical narrative. We use standardized phenotyping, structured ontologies, and AI-augmented decision support tools to maximize diagnostic precision while maintaining the personalized care that complex genetic conditions demand.

  • Board-certified by the American Board of Medical Genetics and Genomics (ABMGG)
  • Fellow, American College of Medical Genetics and Genomics (FACMG)
  • Expertise across pediatric and adult genetic medicine
  • Collaborative team including certified genetic counselors (CGC)
  • AI-augmented clinical decision support platform
  • Longitudinal care management for chronic genetic conditions
What We Do

Clinical Services

Comprehensive genetic evaluation and management services delivered with diagnostic rigor and compassionate care.

Diagnostic Evaluation

Comprehensive clinical assessment for suspected genetic conditions including detailed phenotyping using Human Phenotype Ontology (HPO), three-generation pedigree analysis, dysmorphology examination, and systematic differential diagnosis construction.

Genetic Testing Interpretation

Expert interpretation and clinical contextualization of genetic test results including whole exome and genome sequencing, multi-gene panels, chromosomal microarray, methylation studies, and single-gene analyses from any accredited laboratory.

Variant Analysis

In-depth analysis and reclassification assessment of variants of uncertain significance (VUS) using ClinVar, gnomAD population frequency data, in silico prediction algorithms, published literature, functional data, and family segregation studies.

Genetic Counseling Coordination

Collaborative care with board-certified genetic counselors (CGC) who provide pre-test and post-test counseling, risk assessment, psychosocial support, cascade testing coordination, and family communication guidance.

Longitudinal Care Management

Ongoing surveillance and management for patients with established genetic diagnoses, including structured disease-specific care pathways, specialist referral coordination, medication management, and proactive screening protocols based on current guidelines.

Second Opinion & Reanalysis

Independent review of prior genetic evaluations and test results. Reinterpretation of genomic data using updated databases and classification criteria. Assessment of whether additional testing or alternative diagnostic strategies may be warranted.

Areas of Expertise

Clinical Specialties

Deep expertise across six major domains of clinical genetics, supported by structured care pathways and multidisciplinary collaboration.

01

Ehlers-Danlos Syndromes

Comprehensive evaluation of all 13 EDS subtypes including clinical assessment using the 2017 International Consortium criteria for hEDS, genetic testing for classical, vascular, kyphoscoliotic, and other molecular subtypes, and multidisciplinary care coordination with cardiology, orthopedics, gastroenterology, neurology, and pain management.

Connective Tissue
02

Hereditary Cancer

Risk assessment and genetic testing for hereditary cancer predisposition syndromes including BRCA1/2-associated breast and ovarian cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, hereditary diffuse gastric cancer, and other hereditary cancer susceptibility conditions. Personalized screening and risk-reduction strategies.

Oncology
03

Neurogenetics

Evaluation of hereditary neurological conditions including Charcot-Marie-Tooth disease, hereditary spastic paraplegia, inherited epilepsies, neurodevelopmental disorders, hereditary ataxias, muscular dystrophies, and mitochondrial disorders. Integration of electrodiagnostic data, neuroimaging, and genomic analysis.

Neurology
04

Cardiovascular Genetics

Genetic evaluation of inherited cardiovascular conditions including hypertrophic and dilated cardiomyopathy, long QT syndrome and other inherited arrhythmias, thoracic aortic aneurysm and dissection (Marfan, Loeys-Dietz, vascular EDS), and familial hypercholesterolemia. Cascade screening and family management.

Cardiology
05

Pharmacogenomics

Comprehensive pharmacogenomic evaluation of drug-metabolizing enzymes (CYP2D6, CYP2C19, CYP3A4/5), drug transporters (SLCO1B1, ABCB1), and pharmacodynamic targets (VKORC1, DPYD, TPMT, NUDT15). Clinical implementation of PGx results to optimize medication selection and dosing.

Precision Medicine
06

Undiagnosed Disease

Systematic evaluation for patients who have undergone extensive medical evaluation without a definitive diagnosis. Structured phenotyping, comprehensive genomic analysis including trio whole exome or genome sequencing, computational phenotype matching, and iterative reanalysis to identify diagnoses.

Rare Disease
How We Work

Our Approach

A structured, evidence-based methodology that integrates clinical expertise with genomic analysis and computational decision support.

I

Comprehensive Intake

Detailed review of your medical history, family pedigree spanning three or more generations, prior genetic testing, and relevant medical records. Standardized phenotype capture using HPO terminology for computational analysis.

II

Clinical Assessment

Focused physical examination with systematic evaluation for features relevant to your differential diagnosis. Dysmorphology assessment, connective tissue evaluation, or neurological examination as indicated by your clinical presentation.

III

Genomic Analysis

Strategic selection and ordering of genetic testing based on clinical findings. Expert interpretation of results with integration of population databases, variant classification criteria, published literature, and functional evidence.

IV

Longitudinal Care

Development of a personalized management plan including disease-specific surveillance protocols, specialist referrals, genetic counseling for at-risk relatives, and ongoing monitoring with periodic reassessment as medical knowledge evolves.

For Patients & Families

Patient Resources

Trusted educational resources and support organizations for patients and families affected by genetic conditions.

Preparing for Your Visit

Gather your personal medical history, family history (three generations when possible), prior genetic test reports, relevant imaging and laboratory results, and a list of current medications. Arrive 15 minutes early to complete intake forms. Plan for a 60 to 90-minute initial consultation.

Understanding Genetic Testing

Genetic testing examines your DNA for changes (variants) that may cause or increase risk for genetic conditions. Test types range from targeted single-gene analysis to comprehensive whole genome sequencing. Your geneticist will recommend testing based on your clinical presentation and family history.

Insurance & Billing

Most major insurance plans cover medically necessary genetics consultations and genetic testing. Our team verifies benefits, obtains prior authorizations, and works with laboratories that offer patient financial assistance programs. We discuss expected costs before any testing is ordered.

National Organization for Rare Disorders

NORD provides patient advocacy, education, and research support for individuals and families affected by rare diseases. Their rare disease database, patient assistance programs, and community forums are invaluable resources.

rarediseases.org →

Genetic and Rare Diseases Information Center

GARD, a program of the National Institutes of Health, provides comprehensive information about genetic and rare diseases including disease descriptions, research studies, clinical trials, and connections to patient support organizations.

rarediseases.info.nih.gov →

ClinGen & ClinVar

ClinGen curates the clinical relevance of genes and variants for use in precision medicine. ClinVar is a public archive of genetic variant classifications. These resources inform our variant interpretation and are freely accessible to patients and providers.

clinicalgenome.org →
Common Questions

Frequently Asked Questions

Answers to the questions we hear most often from patients, families, and referring providers about clinical genetics care.

A clinical geneticist is a physician (MD or DO) who has completed residency training in Medical Genetics and Genomics and is board-certified by the American Board of Medical Genetics and Genomics (ABMGG). Clinical geneticists perform physical examinations, make medical diagnoses, order and interpret genetic tests, and manage ongoing medical care. A genetic counselor holds a master's degree and is certified by the American Board of Genetic Counseling (ABGC). Genetic counselors specialize in risk assessment, patient education, psychosocial support, and test coordination. At SequenceMD, our clinical geneticist and genetic counselors work as a collaborative team to provide comprehensive care.
Your initial genetics consultation typically lasts 60 to 90 minutes. Before your visit, we will ask you to complete intake forms detailing your personal medical history, family history (ideally spanning three generations), and any prior genetic testing. During the appointment, the geneticist will review your history in detail, perform a focused physical examination looking for features relevant to your suspected condition, construct a detailed pedigree, and discuss potential diagnoses. We may recommend genetic testing at that visit or request additional medical records first. You will leave with a clear plan for next steps, whether that involves testing, referrals, or follow-up evaluation.
Most major insurance plans, including Medicare and Medicaid, cover medically necessary genetic testing when ordered by a qualified provider with appropriate clinical indication. Coverage varies by plan, test type, and diagnosis. Many genetic testing laboratories offer financial assistance programs and will verify your insurance benefits before testing begins. Our team performs prior authorization when required and works with laboratories that offer patient-friendly billing. Out-of-pocket costs for many gene panels have decreased significantly and some are available for under $250 even without insurance. We will always discuss expected costs with you before any testing is ordered.
A variant of uncertain significance (VUS) is a genetic change identified through testing that does not yet have enough evidence to be classified as disease-causing (pathogenic) or benign. Approximately 30 to 50 percent of variants identified on broad genetic panels are classified as VUS. This does not mean the variant is unimportant; it means the scientific community has not yet accumulated sufficient data to make a definitive determination. At SequenceMD, we perform detailed VUS analysis using population databases such as gnomAD, functional prediction tools, ClinVar submissions, published literature, and segregation data from family members. In many cases, we can provide additional clinical context that helps clarify the significance of a VUS over time.
Turnaround times depend on the type of testing ordered. Single gene tests and targeted variant analyses typically return within 1 to 2 weeks. Multi-gene panels generally take 2 to 4 weeks. Whole exome sequencing (WES) and whole genome sequencing (WGS) typically require 6 to 12 weeks due to the complexity of data analysis and interpretation. Chromosomal microarray results usually return within 2 to 3 weeks. We schedule a results disclosure appointment once your results are available to review findings, discuss implications, and outline next steps together.
Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The most common subtype, hypermobile EDS (hEDS), is diagnosed using the 2017 International Consortium criteria, which assess generalized joint hypermobility via the Beighton score, systemic features of connective tissue disorder, and musculoskeletal complications. Other subtypes, such as classical EDS (COL5A1/COL5A2), vascular EDS (COL3A1), and kyphoscoliotic EDS (PLOD1/FKBP14), are confirmed through genetic testing. SequenceMD has deep expertise in EDS evaluation and works closely with multidisciplinary specialists including cardiologists, orthopedists, gastroenterologists, and pain management physicians.
Yes. Hereditary cancer genetic testing identifies germline variants in genes associated with significantly increased cancer risk. Well-known examples include BRCA1 and BRCA2 (breast and ovarian cancer), Lynch syndrome genes MLH1, MSH2, MSH6, and PMS2 (colorectal and uterine cancer), and TP53 (Li-Fraumeni syndrome). A positive result allows for personalized cancer screening protocols, risk-reducing interventions, and cascade testing of at-risk family members. It is important to note that most cancers are not hereditary; approximately 5 to 10 percent of cancers have a strong genetic component. Genetic testing is recommended when personal or family history suggests a hereditary pattern, such as early-onset cancer, multiple primary cancers, or clustering of specific cancer types within a family.
Pharmacogenomics (PGx) is the study of how your genes affect your response to medications. Genetic variations in drug-metabolizing enzymes, transporters, and receptors can cause you to metabolize certain medications too quickly, too slowly, or not at all. This can lead to adverse drug reactions, therapeutic failure, or the need for dose adjustments. Pharmacogenomic testing examines genes such as CYP2D6, CYP2C19, CYP3A4, DPYD, TPMT, and SLCO1B1 to guide prescribing decisions. At SequenceMD, pharmacogenomic results are integrated into your medical record and used to guide treatment selection across all prescribing specialties, particularly in psychiatry, cardiology, oncology, and pain management.
Referral requirements depend on your insurance plan. Many PPO plans allow self-referral to specialists, while HMO and some managed care plans require a referral from your primary care physician. Medicare generally does not require a referral for specialist visits. We recommend contacting your insurance plan to verify whether a referral is needed. Our team can assist with obtaining referrals and prior authorizations when necessary. If you are unsure whether a genetics evaluation is appropriate for your situation, you are welcome to contact us and we can help determine whether a consultation would be beneficial.
Whole exome sequencing (WES) analyzes the protein-coding regions of all approximately 20,000 genes in the human genome. The exome represents roughly 1 to 2 percent of total genomic DNA but contains about 85 percent of known disease-causing variants. WES is typically recommended when targeted gene panels have been non-diagnostic, when the clinical presentation does not fit a single recognizable syndrome, or when the differential diagnosis is broad. Trio WES, which includes sequencing of the patient and both biological parents, increases diagnostic yield to approximately 30 to 40 percent by enabling identification of de novo variants and clarification of inheritance patterns. SequenceMD works with accredited laboratories that perform WES with comprehensive variant interpretation and reanalysis programs.
Yes. Your genetic information is protected by multiple federal and state laws. The Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from discriminating based on genetic information. HIPAA (Health Insurance Portability and Accountability Act) protects the privacy of all medical records, including genetic test results. Genetic test results are part of your medical record and are subject to the same privacy protections as all other health information. It is important to note that GINA does not cover life insurance, disability insurance, or long-term care insurance. We are happy to discuss the privacy implications of genetic testing in detail during your consultation so you can make a fully informed decision.
SequenceMD provides comprehensive evaluation for a wide spectrum of genetic and genomic conditions including: Ehlers-Danlos syndromes and heritable connective tissue disorders; hereditary cancer predisposition syndromes; neurogenetic conditions such as hereditary neuropathies, epilepsies, and neurodevelopmental disorders; cardiovascular genetic conditions including cardiomyopathies, arrhythmias, aortopathies, and familial hypercholesterolemia; pharmacogenomic evaluation for medication optimization; undiagnosed disease evaluation for patients with complex presentations who have not received a definitive diagnosis; hereditary kidney disease; and prenatal genetic consultation. We also provide longitudinal care management for patients with established genetic diagnoses who require ongoing surveillance and coordination.
The diagnostic odyssey refers to the prolonged and often frustrating journey that patients with rare diseases endure before receiving an accurate diagnosis. On average, patients with rare diseases see 7 or more physicians and wait 5 to 7 years before receiving a correct diagnosis. This delay leads to unnecessary testing, inappropriate treatments, psychological distress, and disease progression. SequenceMD is designed to shorten the diagnostic odyssey through systematic phenotyping using standardized ontologies (Human Phenotype Ontology), comprehensive genomic analysis, structured differential diagnosis frameworks, and AI-augmented clinical decision support. Our approach integrates clinical expertise with computational tools to identify diagnoses more efficiently and reduce the burden on patients and families.
Absolutely. Many patients come to SequenceMD seeking a second opinion on existing genetic test results or further evaluation after inconclusive findings. We routinely review and reinterpret results from outside laboratories, assess whether additional testing is warranted, provide updated variant classification using current databases, and offer clinical correlation that places your results in the context of your full medical and family history. Genetic knowledge evolves rapidly, and variants classified as uncertain several years ago may now have sufficient evidence for reclassification. We recommend bringing all prior genetic testing reports, medical records, and family history documentation to your appointment for the most thorough evaluation.
Get in Touch

Contact SequenceMD

We welcome inquiries from patients, families, and referring providers. Reach out to learn more about our services or to schedule a consultation.

How to Reach Us

Whether you are a patient seeking a genetics evaluation, a family member with questions, or a referring provider looking to coordinate care, we are here to help. Contact us by email and our team will respond within one business day.

Emailinfo@sequencemd.com
Response TimeWithin 1 business day
Referring ProvidersReferrals accepted by email, fax, or phone

Schedule a Consultation

Take the first step toward answers. Contact our office to schedule your initial genetics consultation. New patient appointments are typically available within 2 to 4 weeks.

Email Us to Schedule

Most insurance plans accepted. We assist with referrals and prior authorizations.