Eugene Consulting Inc.
1602- 111 St. Clair Ave W
Toronto, ON
M4V 1N5

August/September 2020 Report
Gene By Gene (https://genebygene.com)- A commercial genetic testing company based in Houston, Texaso Specializes in DNA-based ancestry and genealogyo The world’s first company to develop consumer DNA testing products forancestry and genealogy applications- Founded in 2000
- Founders: Bennett Greenspan (https://www.linkedin.com/in/bennett-greenspan1a43676) and Max Blankfeld (https://www.linkedin.com/in/max-blankfeld-80b3623/)- Subsidiaries:o Family Tree DNA - https://www.familytreedna.com/o Arpeggi Inc.
▪ On July 13, 2013, Gene by Gene Acquired Arpeggi, a Startup health andGE-backed company that develops solutions for genome sequencing, data
management and computational analysis▪ The acquisition of the company will support Gene and Gene achieve its
goals of making next-generation DNA sequencing and clinical genomics
accessible and affordable to all▪ Arpeggi was founded in 2012 and in April of 2013, they release GCAT,
Genome Comparison And Analytic Testing, which is a free community
driven platform for evaluating the performance of next-generationsequencing data analysis methods▪ The entire Arpeggi team and technology platform has been
incorporated into Gene by Gene
▪ Arpeggi’s founders also joined Gene by Gene’s management team
- Raised 1 seed round of funding –for an undisclosed amount – on July 18, 2013
o Funded by Startup Health
Products- Customers are provided buccal (cheek) swab kits with each ordero Each test requires 2 buccal swabs
o Each kit comes with return packaging and pre-paid shipping label- Whole Exome Sequencing
o Exome sequencing has the ability to simultaneously analyse approximately
60 million base pairs, representing 22,000 genes using next-generation
sequencing
o This can help identify variants that may be the genetic cause of a wide rangeof traits and conditionso Platform: Illumina HiSeq

Eugene Consulting Inc.
1602- 111 St. Clair Ave W
Toronto, ONM4V 1N5----o Result Delivery: Results are delivered to the customer via electronic FTPtransfer and are only stored by Gene By Gene for 30 days
Whole Genome Sequencing
o Offers a high degree of accuracy in identifying variants across the entirescope of the human genomeo Can only be completed with a blood sample
o Platform: Illumina HiSeq
Complete Mitochondrial Sequencing (mtDNA) –o Highest level of mtDNA testing available
o Covers all 16,659 base pairs which includes HVR1 and HVR2 regions, and thecoding regiono Test also includes alignment and variant calling analytics
o Platform: Illumina MiSeq
o Result Delivery: Results will be available for customer via electronic FTPtransfer and are only stored by Gene By Gene for 30-60 days
Fragile X –o To examine carrier status of Fragile X syndromeo CGG repeat size is assessed using AmplideX FMR1o Results are reported in reference to Human Genome 19, Human Build 37
o Methodology:▪ Once DNA is extracted, it is amplified to obtain coding exons and theirflanking regions▪ Sanger-sequencing method is used and all fragments are sequenced
by forward and reverse internal primers when possible to determine
the noted regions▪ When this is not possible, PCR and sequencing are performed in atleast 2 independent reactions in 1 direction▪ Mutations are scored relative to reference sequencing in the publicly
available database NCBI and following the recommendations of thehuman genetic variation nomenclature scheme▪ Exome 1 of the tested gene is defined as the exon in which the first
ATG appears▪ Chromosomal positions are indicated according to the hg19 reference
assembly▪ Reports are reviewed and approved by the Gene by Gene Chief
Medical Officer and the Clinical Laboratory Director
Illumina Global Screening Array –o Optimized tag SNP content from all 3 HapMap phases has been strategicallyselected to capture the greatest amount of common variation and drive thediscovery of novel associations with traits and conditions

Eugene Consulting Inc.
1602- 111 St. Clair Ave W
Toronto, ONM4V 1N5---o The Infinium Global Screening Array-24 v2.0 BeadChip combines multiethnic genome-wide content, curated clinical research variants, and quality
control (QC) markers for precision medicine research.
o Samples are analyzed using the Illumina HumanOmniExpress BeadChip
process and genome build GRCh37/hg19
o All data collected is evaluated using Illumina’s GenomeStudio v2.0 software
o Genotypes obtained from the Illumina Global Screening Array can be used toidentify copy number variations (CNVs)
Sanger Sequencing – includes full sequencing of the exons in the associated gene, +/10bp into the flanking intronic regions
o Used to look at the entire sequencing of a gene to identify potential variationso A clinical genetic test that delivers information on any variants and theirclinical significanceo Follows the same methodology as the Fragile X test
SARS-CoV-2 Detection Testo Detects the presence of nucleic acid from Severe Acute Respiratory
Syndrome Coronavirus 2 (SARS-CoV-2) that causes novel coronavirus
disease (COVID-19)
o Intended use is for patients who meet the Centers for Disease Control andPrevention (CDC) criteria for evaluation of infection with COVID-19.
o a real-time RT-PCR (rRT-PCR) assay used to detect the presence of SARSCoV-2 RNA isolated from respiratory specimens.
o Following receiving swab specimens, nucleic acid will be extracted using anautomated system followed by an rRT-PCR assay.
o A nasal swab kit will be provided with each ordero Samples must be collected by a qualified healthcare professional
Tryptase CNV Testing (Genetic Copy Number Variation Test)o For patients who exhibit any of the following symptoms:▪ A tryptase level of 6 or more
▪ Cutaneous flushing, itching, and severe allergic reactions▪ Dysautonomia▪ Chronic pain
▪ Connective tissue abnormalities
o For patients who have been diagnosed with any of the following▪ Mast Cell Activation Syndrome (MCAS)▪ Postural Orthostatic Tachycardia Syndrome▪ Gastroparesis▪ Ehlers-Danlos Syndromeo Test may be self-administered– during an office visit or at homeo Can access and download the results online

Eugene Consulting Inc.
1602- 111 St. Clair Ave W
Toronto, ONM4V 1N5Services- FamilyTreeDNA -a direct-to-consumer DNA testing company for ancestryo Family ancestry kit – $70 USD▪ Discover ethnic and geographic origins▪ Find unknown realtives▪ ancientOrigina (latest enhancement to Family Finder) allows you tocompare your DNA to DNA from archeological dig sites throughout
the European continent▪ can find out how much autosomal DNA you still carry of the ancient
European groups▪ can explore ancient ancestors migration routes▪ Users can only view, sort, and compare DNA matches by parental lineso Paternal Ancestry (male-specific test) - $119 USD▪ Uses males Y-DNA to determine where their direct paternal ancestors
came from and how they migrated▪ There are 3 test: one that examines 37 short tandem repeats on the Ychromosome, another than examines 111 and a third that examines
700 short tandem repeats and over 200k SNPs on the Y chromosome
o Maternal Ancestry▪ Trace maternal ancestry using advanced mtDNA tests and the world’largest mtDNA database▪ Use mtDNA to determine where their direct maternal ancestors camefrom and how they migrated▪ New feature: mtFull Sequence video• Tells the story of your maternal ancestry and is a fun way toshare results with others- Carrier Screeningo Provides customers with information on their risk of having a baby with agenetic conditiono Tests for 253 autosomal recessive and X-linked recessive conditionso List of conditions tested: https://genebygene.com/wpcontent/uploads/2019/08/GeneByGene-Carrier-Screen-Conditions.pdf
o Sample collection is done with a cheek swabo Results are laid out in a simple report – 1st page = summers, follow pages
provide details
o Sample report: https://genebygene.com/wp-content/uploads/2019/08/samplereport.pdf
o Screening Process1) Patient and healthcare provider make the decision to order geneticcarrier screening

Eugene Consulting Inc.
1602- 111 St. Clair Ave W
Toronto, ON
M4V 1N5----2) Sample collection using a check swab3) Sample is sent to Gene by Gene’s lab4) Results are provided in 2 weeks after sample is received5) If results indicate you are a carrier for a condition tested, a meetingwith a genetic counselor is scheduled6) Billing
Clinical Testing Services
o Help identify and guide clinical care for patients by giving healthcare
providers insight into the underlying genetic component of a disease or
health conditiono Can be used to confirm a diagnosis, provide better understanding of aprognosis, and direct medical managemento Can support healthy pregnancies with carrier screening and preimplantation
testingo Can determine someone’s predisposition to cancer, cardiovascularconditions, and moreo A clinician can subit a test request form or a patient can let their clinicianknow
COVID-19 Testingo Only a healthcare provider can collect the specimen necessary to test for
COVID-19o This test has not been FDA cleared or approved however it has beenauthorized by FDA under an EUA for use by authorized labso This test is authorized only for the detection of nucleic acid from SARS-CoV-2
and not for any other viruses or pathogens
Forensic Testing & Genealogy Services
o Uses familial matching within the FamilyTreeDNA database to identify
individuals who may be related to an unknown sample and sometimes theidentity of the unknown individual associated with the sample
o Gene by Gene and FamilyTreeDNA can provide forensic genealogy services tolaw enforcement for violent crimes against individuals or to identify thehuman remains of a deceased individualo Cases are submitted and the Gene by Gene team reviews case files andprovides an evaluation of the suitability of the sample prior to testing
Immigration DNA Testingo DNA testing service that assist with the immigration process between the USand countries around the world
o Has experience working with embassies around the world
o Each client with be provided with an experienced professional who offers
guidance throughout the testing process

Eugene Consulting Inc.
1602- 111 St. Clair Ave W
Toronto, ONM4V 1N5-o Most often, sample collection methods isa buccal swab, however, if embassy
requires blood, will also work with blood stain cards
o Must contact Gene and Gene for pricing
Paternity Testingo Court admissible DNA test - $425 USD
o Personal use test - $198 USD
Maternity Testingo Court admissible DNA test - $475 USD
Research Genetics
o Helps researchers gain in-depth knowledge to better understand the role ofgenetics through affordable exome and whole genome sequencing andgenomic data managemento Research partners are provided with
▪ Services are HIPAA compliant and conducted in a CAP/CLIA
accredited laboratory▪ Illumina NovaSeq 6000 instrument▪ PCR-free, Whole-Genome Sequencing▪ Data provided as FASTQ▪ Array services

News- Gene by Gene announced on April 30, 2020 that they will begin performing adiagnostic test to detect nucleic acid from the SARS-CoV-2 virus that causes COVID19 to answer the call for additional testing capabilities in the U.S.
o The test produces results in less than 24 hours of a specimen arriving at theGene by Gene lab- Numerous reports describe the growth of the Direct-to-consumer Disease risk andHealth DNA Test market and lists Gene by Gene as a key player- https://sacramento.cbslocal.com/2020/08/04/genetic-genealogy-leads-to-mothers-arrestin-her-babys-1988-killing/ - Aug 4, 2020o A women was arrested in the death of her newborn baby in San Francisco 32years ago▪ The case was taken up last year with the help of Gene-by-Gene andafter extensive genealogy research, surveillance, and DNA collectedfrom the assailant led to an arrest