Test Reporting Updates Memorandum – Exome

In a continuing effort to optimize our offerings, the below detailed changes will be made to our exome platform offerings effective July 3, 2017. In summary these changes will include:

• For all exome tests offered by Baylor Genetics, the medically actionable genes list for secondary findings will include only those recommended by American College of Medical Genetics and Genomics (ACMG) guidelines.^{1, 2} There will still be an option to opt-in or out of receiving this information.
• Pharmacogenetic results will not be reported for any of the exome tests offered by Baylor Genetics (except for Adult Screening Exome (Test code 1605)).
• Additional findings if any, such as candidate disease gene(s) that are postulated to contribute to patient’s clinical phenotype, will be reported in section 5 for all whole exome tests offered by Baylor Genetics (does not apply to Total BluePrint).

See below for more detailed information for each test.

• • The reporting policy for the Proband Whole Exome Sequencing (Test code 1500) will change as described below:
  • The medically actionable genes list for secondary findings will include only those recommended by ACMG guidelines.^{1, 2}
  • There will still be an option to opt-in or out of receiving this information. There will no longer be an additional option for Baylor Genetics determined reporting of medically actionable findings.
  • Pharmacogenetic results (section 5 of the report) will no longer be reported. This section will be replaced by additional findings, if any, such as candidate disease gene(s) that are postulated to contribute to the patient’s clinical phenotype.
  • The reporting policy for the Total BluePrint Panel (Test code 1390) and BluePrint Proband Whole Exome Sequencing (Test code 1399) will change as described below:
  • The medically actionable genes list for secondary findings will include only those recommended by ACMG guidelines.^{1, 2}
  • There will still be an option to opt-in or out of receiving this information. There will no longer be an additional option for Baylor Genetics determined reporting of medically actionable findings.
  • The reporting for Trio Whole Exome Sequencing (Test code 1600), Critical Trio Whole Exome Sequencing (test code 1722), Sequential Trio Whole Exome Sequencing (Test code 1601) and Additional Affected Sibling for Trio (Test code 1602) will be updated as described below:
  • The reporting of medically actionable findings for secondary findings will be updated based on the latest ACMG recommendations.²

There will still be an option to opt-in or out of receiving this information.