STUDY & PROTOCOL 1267554 Whole Genome Informed PGT-IVF (WIN-IVF) PRINCIPAL INVESTIGATORS Akash Kumar, MD, PhD
Anthony Gregg, MD, MBA, FACMG
SPONSOR MyOme, Inc. IRB TRACKING WIRB 20180294

STUDY SUMMARY FOR PARTICIPANTS

Dear Study Participant:

Thank you for your participation in this Institutional Review Board (IRB)-approved research study. As part of this study, we have tested you, your partner and your relatives along with data derived from embryo samples that were obtained from your PGT/S-IVF process. We used Next-Generation Whole Genome Sequencing (WGS) and individualized analyses to identify genetic changes that are associated with specific types of diseases. Results are summarized on page 2. This summary includes risk information for each individual embryo with respect to:

  • Rare monogenic conditions: We looked for selected inherited variants in single genes (monogenic) that have a known association with disease. These include some hereditary cancer syndromes (e.g. Lynch syndrome), some cardiovascular conditions (e.g. hypertrophic cardiomyopathy, Marfan syndrome), and other medical disorders (e.g. Fabry disease). We also included 59 genes identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG). Please visit https://www.ncbi.nlm.nih.gov/pubmed/23788249 for further details. The complete list of rare genetic disorders assessed in this study can be found in Addendum 2. Both the summaries for the embryos and the individual participant carrier results are included in this report.
  • Multifactorial conditions: Some diseases including certain autoimmune conditions (e.g. celiac disease, psoriasis) some cancers (e.g. breast cancer) and certain types of cardiovascular conditions (e.g. coronary artery disease) are associated with effects of multiple genes (polygenic) in combination with lifestyle and environmental factors. For these conditions, using your genome information, we generated a Polygenic Risk Score (PRS) to predict disease risk. While this approach has been previously used in research studies for a set of conditions we report (see References on Addendum 4), our risk estimates are experimental. We invite you to visit https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores#:~:text for further information)

A medical geneticist or board-certified genetic counselor will go over the summary with you and assist you in understanding the information within this report. Detailed information about the methodology and limitations of this study are available in the Addendum.

Sincerely,

Akash Kumar, MD, PhD
Principal Investigator; Medical Director - MyOme, Inc.

Questions

If you have questions regarding this study, you can speak with the study's Principal Investigator (PI) and Medical Geneticist to discuss the study in detail and have your questions answered. If you have concerns, complaints or additional question regarding this study, contact the study PI Akash Kumar, MD, PhD, akumar@myome.com This research is being overseen by an Institutional Review Board (IRB). You may contact them at (800) 562-4789 or help@wirb.com if:

  • You have questions, concerns, or complaints that are not being answered by the research team.
  • You are not getting answers from the research team.
  • You cannot reach the research team.
  • You want to talk to someone else about the research.
  • You have questions about your rights as a research subject.
Clinic: Acme Clinic
Physician: Dr. Pluto
Phone: (800) 347-6391
Fax: (800) 347-6392
NPI:1234567891
Self-Reported Family History: Psoriasis (Paternal)
PLOIDY STATUS
RARE MONOGENIC DISEASE RISK

One embryo was predicted to carry a risk allele for colorectal cancer. Another embryo was predicted to be a carrier for the condition below. No embryos predicted to have positive findings.

MULTIFACTORIAL CONDITIONS (POLYGENIC RISK SCORES)

One embryo was predicted to carry a risk allele for colorectal cancer. Another embryo was predicted to be a carrier for the condition below. No embryos predicted to have positive findings.

System Condition EMBRYO 1 EMBRYO 2 EMBRYO 3 EMBRYO 4
POSITIVE: indicates that the identified embryo carries a variant that may predispose the child towards the development of the specified genetic disorder. The finding of a pathogenic variant does not guarantee the individual will develop the disease associated with the gene
NEGATIVE: indicates that no pathogenic variant was identified in the gene associated with the specified genetic disorder in the embryo. This does not mean the child will not develop the disease. It means the child does not have a predisposition towards developing the disease.
NO CALL: indicates that we were unable to test this embryo for variants in the gene associated
with the specified genetic disorder.
CARRIER: indicates that a single pathogenic variant was identified in an autosomal recessive gene or in an X-linked gene in a female embryo. In most cases these variants would not affect an individual's health but can identify potential risk of passing a genetic disorder to their children.
RISK FACTOR: indicates that the embryo carries a variant that is associated with an increased risk of developing a condition, but does NOT cause that condition
IP: Inheritance Patterns: AD; Autosomal Dominant; AR: Autosomal Recessive; X: X-linked
RISK RATIO: Represents the fold-increase
in disease risk of the embryo (individual-specific estimate of lifetime risk divided by baseline lifetime risk of disease within the general population). A 1.0x risk ratio indicates the same risk as individuals of matched ethnicity
LIFETIME RISK: Calculated using a model based on a large repository of hundreds of thousands of genomes with associated clinical phenotypes to provide a lifetime risk of disease Highlighted regions indicate the embryo has either a two-fold higher lifetime risk of disease or PRS percentile of 95% or higher OR risk ratio 2x or higher. Generally, a lower risk (and a lower percentile) is preferable.

Note: This analysis assesses only inherited variants and does not analyze new (de novo) variants unique to the embryo.

MONOGENIC DISEASE RISK DETAILS

Positive Findings for Monogenic Conditions

NONE

Carrier or Risk Alleles for Monogenic Conditions

MULTIFACTORIAL DISEASE RISK DETAILS

Psoriasis

Overview Psoriasis is a skin condition that causes redness and irritation. You can develop psoriasis at any age, but it is most commonly diagnosed between 15 and 35 years of age. A psoriasis attack may be triggered by too much sunlight, dry air or stress and may be worse in people with a compromised immune system.
Symptoms Symptoms of psoriasis can appear suddenly or slowly and often go away and then come back. The main symptom is red, flaky skin that is mostly commonly seen on elbows and knees. People with psoriasis may also experience joint pain or changes in their nails (thickening, discoloration).
Factors that
Increase Risk
PHaving a high genetic risk score does not mean you will necessarily develop psoriasis. There are other factors that influence your risk of developing this disease including the following:
1. Family history. Having parents with psoriasis increases your risk.
2. Smoking. Smoking increases your risk of developing this condition and may also increase severity
3. Obesity. Being overweight increases your risk of developing this condition
Next Steps We suggest you talk to your doctor about this finding in the context of your own and your family's health history.
Read More MedlinePlus Encyclopedia: https://medlineplus.gov/ency/article/000434.htm
Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/psoriasis/symptoms-causes/syc-20355840

Type 1 Diabetes

Overview Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes.
Symptoms The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss.
Factors that
Increase Risk
1. Family history: Having a parent or sibling with type 1 diabetes increases the risk of a person having the same type. If both parents have type 1 diabetes, the risk is even higher.
2. Age: Type 1 diabetes usually develops in younger adults and children. It is one of the most common chronic conditions that develop in childhood. Children are typically younger than 14 years old when they receive a diagnosis. Type 1 diabetes might occur at any age, although developing type 1 diabetes later in life is rare.
Having a high risk of type 1 diabetes based on this test does not mean you will definitely develop this condition. Other genetic and non-genetic factors such as age, sex, and ethnicity can impact your chances of developing the disease.
Next Steps We suggest you talk to your doctor about this finding in the context of your own and your family's health history.
Read More There are many resources with additional information about type 1 diabetes such as the following:
Genetics Home Reference: https://ghr.nlm.nih.gov/condition/type-1-diabetes
MedlinePlus Encyclopedia: https://medlineplus.gov/ency/article/000305.htm
Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/type-1-diabetes/symptoms-causes/syc-20353011
Embryo 1
Lifetime Risk Pop. Risk Risk Ratio Percentile
0.0% 10% 20% 30% 40% 50%
Embryo 2
Lifetime Risk Pop. Risk Risk Ratio Percentile
0.0% 10% 20% 30% 40% 50%
Embryo 3
Lifetime Risk Pop. Risk Risk Ratio Percentile
0.0% 10% 20% 30% 40% 50%
Embryo 4
Lifetime Risk Pop. Risk Risk Ratio Percentile
0.0% 10% 20% 30% 40% 50%
ADDENDUM 1

Test Background

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from a typical sequence. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (polygenic disorders), by a combination of gene mutations and environmental factors (multifactorial disorders), or by chromosome abnormalities (changes in the number or structure of entire chromosomes, the structures that carry genes). For further information: www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores

and www.genome.gov/genetics-glossary/Mendelian-Inheritance Standard approaches for embryo testing investigate inherited conditions that run in families (PGT-M: Preimplantation Genetic Testing for Monogenic/single gene defects) as well as chromosome abnormalities (PGT-A: Preimplantation Genetic Testing for Aneuploidies). MyOme has developed a method that expands the range of genetic conditions available for testing to include multifactorial conditions and actionable rare monogenic disorders that may not have been identified in the family.

Test Method

Genomic DNA obtained from submitted samples was sequenced using either Illumina or BGI technology. Reads were aligned to a reference sequence (hg19) and sequence changes were identified. For some genes, only specific changes were analyzed. Deletions and duplications were not examined unless otherwise indicated above. In some scenarios, independent validation of HLA type may have been performed by an external lab. Selected variants were annotated and interpreted according to ACMG (American College of Medical Genetics) guidelines. Only pathogenic or likely pathogenic variants are reported.
Embryo and parent genotyping with subsequent "Parental Support" analysis was performed by Natera's CLIA laboratory. Embryo genomes were reconstructed using embryo genotypes and parental whole genome sequences using a proprietary

"Genome Reconstruction" algorithm. Only variants observed in the parents genomes that are predicted to have an impact on the embryo were examined in the reconstructed embryo genomes. Those are the only variants included in this report.
For a subset of conditions, a polygenic risk score was calculated as discussed in the publications below. Models for each condition were evaluated on the UK Biobank population. Some polygenic risk scores may be refined using HLA type. An individual's lifetime risk was calculated by adjusting the baseline risk (in the US population) according to their demographic information and polygenic risk score. Models for which the 95th percentile of polygenic risk was predicted to confer double the lifetime risk or 8% threshold baseline risk were included in the report.

Test Limitations

  1. The results of this study do not eliminate the need for routine prenatal screening and testing as recommended during pregnancy. Routine pregnancy care should still be practiced as directed by your physician.
  2. This test is designed to provide information only for the specific monogenic conditions listed in Addendum 2. Additional testing information for other monogenic diseases is NOT included in the analysis.
  3. This test does not examine structural variants, inclusive of deletions and duplications, which may be a cause of disease
  4. This analysis assesses only inherited variants and does not analyze new (de novo) variants unique to the embryo.
  5. PRS results are risk estimates only and are NOT diagnostic, nor do they guarantee the presence or absence of a disease. Irrespective of the results provided in this study, there is still a 3-5% chance in every pregnancy of genetic and/or non-genetic medical problems, including birth defects and intellectual disability.
  6. The PRS test is designed to provide risk estimates only for the specific conditions listed above. Additional PRS for other polygenic diseases are NOT included in the analysis.
  7. PRS is not reported in aneuploid embryos due to the known interference of chromosomal abnormalities with polygenic disease risk calculations.
  8. PRS calculations do not include additional non-genetic factors such as environmental exposure.
  1. Sensitivity of the test may be reduced when participant demographics differ from the training set which is currently a group of UK/British individuals.
  2. PRS prediction of disease risk may be reduced in certain families with rare, monogenic variants.
  3. A history of stem cell or bone marrow transplantation, or recent blood transfusion, in at least one of the biological parents may impact the accuracy of the results and must be reported to the PI of the study
  4. Like most tests, this test has a risk of false negative or false positive results. Chromosomal mosaicism is one possible cause for a false positive or false negative result. The overall chance of a false negative or a false positive result unrelated to mosaicism is 2% and includes, but is not limited to, sample contamination from biological or non-biological sources, specimen marking issues, rare genetic variants interfering with analysis, and other technical issues and limitations.
  5. Although rare, it is possible that results for one or more embryos are not available. Testing is unavailable for samples damaged by human error or lost/destroyed due to weather, transit issues or other problems beyond the control of this study and the testing laboratory.
  6. Test results should always be interpreted by a clinician in the context of clinical and familial data with the availability of genetic counseling when appropriate.

Disclaimers and Compliance Statements

The following information is provided under the IRB-approved study #1267554 under WIRB. Every reasonable care is taken to ensure that the information is accurate. Although portions of this testing were performed at Natera, Inc, a CLIA-certified clinical laboratory (CLIA ID#05D1082992), the summary and information is NOT provided as a clinical result. CLIA is a federal program overseen by the Centers for Medicare and Medicaid Services (CMS). This test is intended for research and informational purposes only. It has not been cleared or approved by the US Food and Drug Administration. The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical

condition or treatment. A medical geneticist is available for you under this study, at akumar@myome.com. Consult your physician before taking action on any information provided in this report. The results are based upon polygenic risk scores (PRS) for each given disease trait. The results are risk estimates only and are NOT diagnostic, nor do they guarantee the presence or absence of a disease. This does not eliminate the need for prenatal screening and testing as recommended during pregnancy. Provided data may have implications for study participants' and their relatives' health. Consider further genetic testing to identify and confirm. This test does not substitute for carrier screening for recessive conditions. Additional carrier screening testing is recommended.

ADDENDUM 2

Test Background

  1. ABCA1 - Familial HDL deficiency; Familial alpha lipoprotein deficiency (aka Tangier disease)
  2. ABCC9 - Familial dilated cardiomyopathy; Familial atrial fibrillation
  3. ABCG5 - Sitosterolemia
  4. ABCG8 - Sitosterolemia
  5. ACADS - SCAD deficiency
  6. ACTA2 - Familial thoracic aortic aneurysms and dissections
  7. ACTC1 - Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Left Ventricular Non-Compaction Cardiomyopathy
  8. ACTN2 - Hypertrophic cardiomyopathy, Dilated cardiomyopathy
  9. ACVRL1 - Hereditary hemorrhagic telangiectasia
  10. AKAP9 - Romano-Ward syndrome
  11. ALPK3 - Hypertrophic cardiomyopathy
  12. ANGPTL3 - Familial hypobetalipoproteinemia
  13. ANK2 - Ankyrin-B syndrome
  14. ANKRD1 - Familial dilated cardiomyopathy
  15. APC - Familial adenomatous polyposis
  16. APOA1 - Familial HDL deficiency
  17. APOA5 - Familial hypertriglyceridemia (predisposition), Familial type 5 hyperlipoproteinemia
  18. APOB - Familial hypercholesterolemia
  19. APOC2 - Apolipoprotein C2 deficiency; Hyperlipoproteinemia 1B (HLPP1B)
  20. ATM - Breast and pancreatic cancers
  21. ATP7B - Wilson disease
  22. BAG3 - Familial dilated cardiomyopathy
  23. BAP1 - Risk of melanoma
  24. BARD1 - Breast and ovarian cancers (evidence limited or conflicting)
  25. BLM - Bloom syndrome
  26. BMPR1A - Juvenile polyposis
  27. BRAF - Cardiofaciocutaneous syndrome; Noonan syndrome
  28. BRCA1 - Hereditary breast and ovarian cancer
  29. BRCA2 - Hereditary breast and ovarian cancer
  30. BRIP1 - Ovarian cancer
  31. CACNA1C - Brugada syndrome
  32. CACNA2D1 - Brugada syndrome
  33. CACNB2 - Brugada syndrome
  34. CALM1 - Romano-Ward syndrome
  35. CALM2 - Romano-Ward syndrome
  36. CALM3 - Romano-Ward syndrome
  37. CASQ2 - Catecholaminergic polymorphic ventricular tachycardia
  38. CDC73 - Hyperparathyroidism-jaw tumor syndrome
  39. CDH1 - Hereditary diffuse gastric cancer
  40. CDKN2A - Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome
  41. CETP - Hyperalphalipoproteinemia 1
  42. CHEK2 - Breast and colorectal cancers
  43. CLCNKB - Bartter syndrome; Gitelman syndrome
  44. COL3A1 - Ehlers-Danlos syndrome, vascular type
  45. COQ2 - Coenzyme Q10 deficiency
  46. COQ9 - Coenzyme Q10 deficiency
  47. CSRP3 - Hypertrophic cardiomyopathy, dilated cardiomyopathy
  48. CUL3 - Pseudohypoaldosteronism type 2
  49. DES - Familial dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy
  50. DMD - Familial dilated cardiomyopathy
  51. DSC2 - Arrhythmogenic right ventricular cardiomyopathy
  52. DSG2 - Arrhythmogenic right ventricular cardiomyopathy
  53. DSP - Arrhythmogenic right ventricular cardiomyopathy
  54. DTNA - Left Ventricular Non-Compaction
  55. ENG - Hereditary Hemorrhagic Telangiectasia
  56. EPCAM - Lynch syndrome
  57. F2 - Hereditary Thrombophilia
  58. FAM175A/ABRAXAS1 - Hereditary cancer-predisposing syndrome
  59. FBN1 - Marfan syndrome
  60. FH - Leiomyomatosis and renal cell cancer
  1. FHL1 - Emery-Dreifuss muscular dystrophy
  2. FKRP - Walker-Warburg syndrome; Limb-girdle muscular dystrophy
  3. FKTN - Fukuyama congenital muscular dystrophy; Walker-Warburg syndrome; Limb-girdle muscular dystrophy; Dilated cardiomyopathy type 1X (DCM1X)
  4. FLCN - Birt Hogg Dube syndrome
  5. FLG - Atopic dermatitis; Ichthyosis vulgaris
  6. FTH1 - Hemochromatosis
  7. GAA - Glycogen storage disease II
  8. GATA-4 - Critical congenital heart disease; Heterotaxy syndrome; NCBI gene - Tetralogy of Fallot
  9. GATAD1 - Familial dilated cardiomyopathy
  10. GCH1 - Dystonia,DOPA-responsive,with or without hyperphenylalaninemia
  11. GCKR - Hypertriglyceridemia; Triglycerides
  12. GLA - Fabry disease
  13. GPD1L - Brugada syndrome
  14. GREM1 - Hereditary mixed polyposis syndrome
  15. HAMP - Hemochromatosis,type 2B
  16. HCN4 - Brugada syndrome; left ventricular noncompaction
  17. HMBS - Porphyria,acute intermittent
  18. HRAS - Costello syndrome
  19. HSD11B2 - Apparent mineralocorticoid excess (AME)
  20. JUP - Arrhythmogenic right ventricular cardiomyopathy
  21. KCND3 - Brugada syndrome
  22. KCNE1 - Long QT syndrome
  23. KCNE1L/KCNE5 - Brugada syndrome
  24. KCNE2 - Long QT syndrome
  25. KCNE3 - Brugada syndrome
  26. KCNH2 - Romano-Ward syndrome; Brugada syndrome
  27. KCNJ1 - Bartter syndrome - type II
  28. KCNJ2 - Short QT syndrome
  29. KCNJ5 - Familial hyperaldosteronism type III
  30. KCNJ8 - Brugada syndrome
  31. KCNQ1 - Romano-Ward syndrome; Brugada syndrome
  32. KCNQ1 - Familial atrial fibrillation; Romano-Ward syndrome
  33. KIT - Gastrointestinal stromal tumor
  34. KLHL3 - Pseudohypoaldosteronism type 2 (PHA2)
  35. KRAS - Noonan syndrome
  36. LAMA4 - Familial dilated cardiomyopathy
  37. LAMP2 - Hypertrophic cardiomyopathy, dilated cardiomyopathy
  38. LCAT - Complete LCAT deficiency; Increased risk of atherosclerosis
  39. LDB3 - Dilated cardiomyopathy, Left Ventricular Non-Compaction Cardiomyopathy
  40. LDLR - Familial hypercholesterolemia; LDL cholesterol
  41. LDLRAP1/ARH - Familial hypercholesterolemia
  42. LIPC - Hepatic lipase deficiency; HDL cholesterol
  43. LMF1 - Combined lipase deficiency (CLD)
  44. LMNA - Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Left Ventricular Non-Compaction Cardiomyopathy
  45. LPL - Familial lipoprotein lipase deficiency
  46. MAP2K1 - Cardiofaciocutaneous syndrome; Noonan syndrome; cancers
  47. MAP2K2 - Cardiofaciocutaneous syndrome
  48. MAX - Susceptibility to pheochromocytoma
  49. MEN1 - Multiple endocrine neoplasia type 1
  50. MET - Familial papillary renal cell carcinoma
  51. MIB1 - Left ventricular noncompaction
  52. MLH1 - Lynch syndrome
  53. MLH3 - Hereditary nonpolyposis colorectal cancer/Lynch syndrome
  54. MRE11 - Associated risk of breast and ovarian cancers
  55. MSH2 - Lynch syndrome
  56. MSH6 - Lynch syndrome
  57. MTTP - Abetalipoproteinemia
  58. MUTYH - MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
  1. MYBPC3 - Hypertrophic cardiomyopathy; Dilated cardiomyopathy
  2. MYH11 - Familial thoracic aortic aneurysms and dissections
  3. MYH7 - Hypertrophic cardiomyopathy, dilated cardiomyopathy
  4. MYL2 - Hypertrophic cardiomyopathy, dilated cardiomyopathy
  5. MYL3 - Hypertrophic cardiomyopathy, dilated cardiomyopathy
  6. MYOZ2 - Hypertrophic cardiomyopathy
  7. NBN - Breast cancer
  8. NEXN - Hypertrophic cardiomyopathy; Dilated cardiomyopathy
  9. NF2 - Neurofibromatosis type 2
  10. NKX2-5 - Familial atrial fibrillation
  11. NOTCH1 - Bicuspid aortic valve
  12. NR3C2 - Pseudohypoaldosteronism type 1 (PHA1) (Autosomal dominant)
  13. NRAS - Noonan syndrome
  14. NT5E - Calcification of joints and arteries
  15. OTC - Ornithine transcarbamylase deficiency
  16. PALB2 - Risk of breast and pancreatic cancers
  17. PAH - Phenylketonuria
  18. PCBD1 - Hyperphenylalaninemia,BH4-deficient
  19. PCSK9 - Familial hypercholesterolemia
  20. PDGFRA - Gastrointestinal stromal tumor
  21. PKP2 - Arrhythmogenic right ventricular cardiomyopathy
  22. PLN - Familial dilated cardiomyopathy; Familial hypertrophic cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy
  23. PMS2 - Lynch syndrome
  24. PRKAG2 - Hypertrophic cardiomyopathy, dilated cardiomyopathy
  25. PRKAR1A - Carney complex,type 1
  26. PROC - Thrombophilia due to protein C deficiency
  27. PROS1 - Thrombophilia due to protein S deficiency
  28. PTCH1 - Basal cell nevus syndrome (aka Gorlin syndrome)
  29. PTEN - PTEN hamartoma tumor syndrome (Cowden syndrome)
  30. PTPN11 - Noonan syndrome
  31. PTS - Hyperphenylalaninemia,BH4-deficient
  32. QDPR - Hyperphenylalaninemia,BH4-deficient
  33. RAD50 - Risk of breast and ovarian cancers
  34. RAD51C - Risk of ovarian cancer
  35. RAD51D - Risk of ovarian cancer
  36. RAF1 - Noonan syndrome
  37. RANGED - Brugada syndrome
  38. RB1 - Retinoblastoma
  39. RBM20 - Familial dilated cardiomyopathy
  40. RET - Multiple endocrine neoplasia type 2; Familial medullary thyroid cancer
  41. RIT1 - Noonan syndrome
  42. RYR2 - Catecholaminergic polymorphic ventricular tachycardia
  43. SAR1B - Chylomicron retention disease
  44. SCN1B - Brugada syndrome; Progressive familial heart block; Familial atrial fibrillation
  45. SCN2B - Brugada syndrome
  46. SCN3B - Brugada syndrome
  47. SCN4B - Brugada syndrome; Familial atrial fibrillation
  48. SCN5A - Romano-Ward long-QT syndrome types 1, 2, and 3; Brugada syndrome
  49. SCNN1A - Pseudohypoaldosteronism type 1 (PHA1) (Autosomal recessive)
  50. SCNN1B - Pseudohypoaldosteronism type 1 (PHA1) (Autosomal recessive)
  51. SCNN1G - Pseudohypoaldosteronism type 1 (PHA1) (Autosomal recessive)
  52. SDHA - Hereditary paraganglioma-pheochromocytoma syndrome
  53. SDHAF2 - Hereditary paraganglioma-pheochromocytoma syndrome (PGL2)
  54. SDHB - Hereditary paraganglioma-pheochromocytoma syndrome (PGL4)
  55. SDHC - Hereditary paraganglioma-pheochromocytoma syndrome (PGL3)
  56. ADHD - Hereditary paraganglioma-pheochromocytoma syndrome (PGL1)
  57. SERPINA1 - Alpha-1-Antitrypsin Deficiency
  58. SERPINC1 - Thrombophilia due to antithrombin III deficiency
  59. SGCD - Familial dilated cardiomyopathy
  60. SLC12A1 - Bartter syndrome
  1. SLC25A13 - Citrullinemia,adult onset type II
  2. SLC37A4 - Glycogen storage disease Ib; Glycogen storage disease
  3. SLC3A1 - Cystinuria
  4. SLC40A1 - Hemochromatosis
  5. SLC7A9 - Cystinuria
  6. SMAD3 - Loeys-Dietz syndromes
  7. SMAD4 - Juvenile polyposis
  8. SMAD4 - Hereditary hemorrhagic telangiectasia/Juvenile polyposis
  9. SMARCB1 - Schwannomatosis
  10. SNTA1 - Romano-Ward syndrome
  11. SOS1 - Noonan syndrome
  12. STK11 - Peutz-Jeghers syndrome
  13. TAZ - Barth syndrome
  14. TBX5 - Holt-Oram syndrome
  15. TCAP - Limb-girdle muscular dystrophy type 2G
  16. TGFB2 - Loeys Dietz syndrome
  17. TGFB3 - Arrhythmogenic right ventricular dysplasia (aka Arrhythmogenic right ventricular cardiomyopathy type 5 - ARVC5)
  18. TGFBR1 - Loeys-Dietz syndromes
  19. TGFBR2 - Loeys-Dietz syndromes
  20. TMEM127 - Susceptibility to pheochromocytoma
  21. TMEM43 - Arrhythmogenic right ventricular cardiomyopathy
  22. TNNC1 - Hypertrophic cardiomyopathy; dilated cardiomyopathy
  23. TNNI3 - Hypertrophic cardiomyopathy; dilated cardiomyopathy
  24. TNNT2 - Hypertrophic cardiomyopathy; dilated cardiomyopathy
  25. TP53 - Li-Fraumeni syndrome; hereditary cancer
  26. TPM1 - Hypertrophic cardiomyopathy; dilated cardiomyopathy
  27. TRDN - Catecholaminergic polymorphic ventricular tachycardia
  28. TRPM4 - Brugada syndrome
  29. TSC1 - Tuberous sclerosis complex
  30. TSC2 - Tuberous sclerosis complex
  31. TTN - Familial dilated cardiomyopathy
  32. TTR - Transthyretin amyloidosis
  33. VCL - Dilated cardiomyopathy; Left Ventricular Non-Compaction Cardiomyopathy
  34. VHL - Von Hippel–Lindau syndrome
  35. WNK1 - Pseudohypoaldosteronism type 2 (PHA2)
  36. WNK4 - Pseudohypoaldosteronism type 2 (PHA2)
  37. WT1 - WT1-related Wilms tumor
  38. XRCC2 - Hereditary cancer
  39. HBA - Alpha Thalassemia
  40. CLN3 - Juvenile CLN3 Disease
  41. HBB - Beta Thalassemia, Methemoglobinemia, Beta-globin Type, Sickle cell disease
  42. BLM - Bloom syndrome
  43. ASPA - Canavan disease
  44. ASS1 - Type I Citrullinemia
  45. CFTR - Cystic Fibrosis
  46. DMD - Duchenne & Becker Muscular Dystrophy, Familial Dilated Cardiomyopathy
  47. IKBKAP - Familial Dysautonomia
  48. FANCC - Fanconi anemia
  49. GALT - Galactosemia
  50. GBA - Gaucher disease/Parkinson disease, Dementia with Lewy bodies
  51. G6PC - Glycogen Storage Disease,
  52. IVD - Isovaleric Acidemia
  53. ACADM - Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
  54. MMACHC - Methylmalonic Acidemia with Homocystinuria, cblC type
  55. MCOLN1 - Mucolipidosis Type IV.
  56. IDUA - Mucopolysaccharidosis Type I (MPS I)
  57. SMPD1 - Niemann-Pick Disease types A and B
  58. PKHD1 - Polycystic Kidney Disease
  59. PEX7 - Refsum Disease, rhizomelic chondrodysplasia punctata type 1 (RCDP1)
  60. DHCR7 - Smith-Lemli-Opitz Syndrome
  61. HEXA - Tay-Sachs Disease
  62. FAH - Tyrosinemia Type I
  63. PEX1 - Zellweger Spectrum Disorder
ADDENDUM 3

Multifactorial Conditions Details: Experimental Results

The diseases and traits listed in the experimental section of this report are not meant to be used in any way for decision-making purposes by you or your physician. These diseases and traits have not met our threshold for being statistically relevant and are included here for informational purposes only because explicitly requested by parents. The following limitations apply:

  1. The analytical models related to these diseases and traits have been validated by MyOme but may have statistical significance comparable with random chance or close to it.
  2. The likelihood of the disease or trait manifesting itself may not be any greater than it happening by chance without using the information below.

EXPERIMENTAL DISEASE INFORMATION

Lifetime risk %
(Percentile of PRS)
System/Category Disease Embryo 1 Embryo 2 EMBRYO 3 EMBRYO 4

EXPERIMENTAL TRAIT INFORMATION

These experimental trait predictions have been included at the request of the study participant. The accuracy of a prediction of a behavioral trait may be low because of unaccounted for environmental factors that can be far more significant than genetic factors, rare genetic variants not included in the model, interactions between variants not included in the model, inability to project from a model based on one ethnicity to another, various other genetic factors not captured in the model, the inability to precisely measure the underlying trait, unmodeled population biases and a host of other factors that can make the models inaccurate. The majority of the risk alleles in behavioral models do not have a known causal relationship connecting the variant to the trait. The definition of behavioral traits often varies and is debated in the scientific community. If you would like further information on our definitions, please contact

the study PI. All caveats and limitations from Addendum 1 additionally apply below.
Education Attainment - Probability the born child will complete a Bachelor's degree. Highly dependent on a baseline percentage. In 2018, the baseline national average was 35%.
Household Income - Probability the born child will be in the top quartile of household income. Highly dependent on the baseline percentage, defined as 25%.
Cognitive Ability - Probability the born child will be in the greater than 90th percentile of a standardized IQ scale.
Subjective Well-being - Probability the born child would respond "Very Satisfied" on a life satisfaction survey.

Lifetime probability %
(Percentile of PRS)
Disease Embryo 1 Embryo 2 Embryo 3 Embryo 4
ADDENDUM 4

References to Publications

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ADDENDUM 5

Decile Plots

ADDENDUM 5

Decile Plots

ADDENDUM 5

Decile Plots