**Personalized Health Care Workgroup: Genetic/Genomic Test Priority
Area**

Definitions below are from a CDC Notice of Intent published in the
Federal Register, Vol 65, No 87, 5/4/2000, 25928:

-   *Molecular genetic and cytogenetic test*: An analysis performed on
    human DNA, RNA, and chromosomes to detect heritable or acquired
    disease-related genotypes, mutations, or karyotypes for clinical
    purposes....

-   *Biochemical genetic test*: The analysis of human proteins and
    certain metabolites, which is predominantly used to detect inborn
    errors of metabolism, heritable genotypes, or mutations for clinical
    purposes.... Tests that are used primarily for other purposes, but
    may contribute to diagnosing a genetic disease (*e.g.* blood smear,
    certain serum chemistries), would not be covered by this definition.

-   The process of performing a genetic test can be broken into three
    distinct phases: (1) The *pre-analytic* phase, which encompasses
    such events as determining which genetic test, if any, is
    appropriate to answer the clinical question being asked and
    collecting an appropriate sample and transporting it to the test
    site; (2) the *analytic* phase, which involves steps taken to
    perform the analysis and analyze the results; and (3) the
    *post-analytic* phase, which includes reporting and interpretation
    of the results.

**Many Genetic/genomic tests can be captured in the following
categories:**

**Types of output: biological entity analyzed**

1.  Full genome scan: DNA

2.  Full genome sequence: DNA

3.  Single gene sequence: DNA

4.  SNP Analysis: DNA

5.  Chromosomal Analysis (Translocation, Inversion, Deletion,
    Duplication, Karyotype): Chromosome

6.  Gene copy numbers/ Expression levels: RNA/DNA /protein

7.  Alternate RNA splicing: RNA

8.  Epigenetics: DNA

9.  Protein dysfunction: protein/metabolite

+----------------------+----------------------+-----------------------+
| **Phase of Testing   |                      |                       |
| -- Information       |                      |                       |
| Needs**              |                      |                       |
+----------------------+----------------------+-----------------------+
| **Pre-analytic**     | **Analytic**         | **Post-analytic**     |
+----------------------+----------------------+-----------------------+
| Standard Patient     | Specimen tracking    | Inform clinicians     |
| Health Information   |                      | that results are      |
|                      | -   Date processed   | available             |
| -   Name             |                      |                       |
|                      | -   Batch number     | Patient specific data |
| -   Individual       |                      | -- linkage to         |
|     identifier       | Specimen processing  | hospital/provider     |
|                      |                      | systems, physician,   |
| -   DOB              | -   Specimen quality | patient               |
|                      |                      |                       |
| -   Age              | ```{=html}           | Data/results          |
|                      | <!-- -->             | interpretation and    |
| -   Patient alive or | ```                  | clinical significance |
|     dead             | -   Extraction of    | in context of         |
|                      |     relevant         | clini                 |
| -   Gender           |     biomolecules     | cal/phenotypic/family |
|                      |                      | history information   |
| -   Hospita          | -   Purification,    |                       |
| l/Provider/Physician |     preparation for  | -   Refer for genetic |
|     ID               |     testing          |     counseling        |
|                      |                      |                       |
| -   Contact          | Sample quality       | ```{=html}            |
|     information      |                      | <!-- -->              |
|                      | Reagent quality      | ```                   |
| -   Billing          |                      | -   Clinical Decision |
|     information      | Standard protocols   |     Support           |
|                      |                      |                       |
| Physician Validation | Instrument           | ```{=html}            |
| of Appropriateness   | integration/medical  | <!-- -->              |
| of Test              | device interface     | ```                   |
|                      |                      | -   Provide warning   |
| -   State Screening  | -   Configuration    |     when previous     |
|     Laws             |                      |     test              |
|                      | -   Automatic data   |     contraindicates   |
| ```{=html}           |     upload           |     intervention etc  |
| <!-- -->             |                      |                       |
| ```                  | -   Raw data in      | -   ID treatment      |
| -                    |     structured,      |     protocols based   |
|   Symptoms/phenotype |     standardized     |     on results        |
|                      |     format           |                       |
| -   Preliminary      |                      | -   Follow            |
|     diagnosis        | IT system to support |     up/confirmatory   |
|                      | work and information |     tests             |
| -   Contextual       | flow                 |                       |
|     health           |                      | ```{=html}            |
|     information, lab | -   Medical device   | <!-- -->              |
|     tests,           |     interface        | ```                   |
|     sign/symptoms    |     to/from          | -   Limitations of    |
|                      |     instruments to   |     testing, what can |
| -   Treatment        |     Lab Info Systems |     and cannot be     |
|     protocols        |                      |     concluded from    |
|                      | General laboratory   |     the test          |
| -   Family history   | management           |                       |
|                      |                      | -   Literature        |
| -   Test results of  | -   Reagents (type,  |     references        |
|     family members   |     concentration,   |                       |
|                      |     purity,          | -   High level and    |
| -   Analytical       |     inventory,       |     specific          |
|     validity,        |     reordering       |     indication based  |
|     clinical         |     details...)      |     on test results   |
|     validity,        |                      |                       |
|     clinical utility | -   Instruments      | Coded vocabulary for  |
|     information      |     (inventory,      | structured results    |
|     about ordered    |     maintenance      |                       |
|     test             |     history, quality | Test specific details |
|                      |     testing          |                       |
| -   Info on relevant |     guidelines)      | -   Materials and     |
|     tests that have  |                      |     method            |
|     already been     | -   Personnel        |                       |
|     performed        |     (training)       | -   Sample            |
|                      |                      |     information       |
| Laboratory           | -   Inspection       |                       |
| Interpretation of    |     records          | Updates on new        |
| Assay Results        |                      | knowledge applied to  |
|                      | Raw data review      | past data/results     |
| -   Pre-existing     |                      |                       |
|     conditions       | -   Data quality     | -   Lab storage of    |
|                      |                      |     results?          |
| -   Relevant social  | -   Error checking   |                       |
|     history          |                      | -   Flag new          |
|                      | -   QA/QC batch      |     interpretations?  |
| -   Ethnic origin/s  |                      |                       |
|                      | -   QA/QC individual | Integrate EMR system  |
| -   Family Health    |     files, identify  | with existing         |
|     History Info     |     those that       | knowledgebanks        |
|                      |     should be re-run |                       |
| -   Reference info   |                      | Secure, structure     |
|     for association  | -   Support for      | reporting to EHR/data |
|     to patient's     |     manual review,   | repository            |
|     EHR/provider     |     repeated testing |                       |
|                      |                      | -   Raw data vs.      |
| -   Documentation of | Data analysis        |     interpretive      |
|     Informed         | software             |     report            |
|     Consent/data     |                      |                       |
|     sharing consent  | Integration with     | -   Data integrity    |
|                      | existing             |                       |
| -   Purpose of test  | knowledgebases       | -   Data access and   |
|                      |                      |     sharing rules     |
| ```{=html}           | Storage of raw       |                       |
| <!-- -->             | data/images          | -   Storage in        |
| ```                  |                      |     knowledgebase?    |
| -   Diagnosis        | -   Security         |                       |
|                      |                      | Secure information    |
| -   Carrier testing  | -                    | transfer between EHR  |
|                      | Temporary/permanent? | systems               |
| -   Pharmacogenomic  |                      |                       |
|                      | -   Structured       |                       |
| ```{=html}           |     format           |                       |
| <!-- -->             |                      |                       |
| ```                  | Additional tests     |                       |
| -   Specimen         |                      |                       |
|     information      | -   Duplicate        |                       |
|                      |     testing:         |                       |
| ```{=html}           |     different        |                       |
| <!-- -->             |     specimen/sample, |                       |
| ```                  |     same test        |                       |
| -   Tissue type      |                      |                       |
|                      | -   Replicate        |                       |
| -   Date of sampling |     testing: same    |                       |
|                      |     specimen/sample, |                       |
| -   Germline vs.     |     same test        |                       |
|     somatic          |                      |                       |
|                      | -   Confirmatory     |                       |
| -   Method of        |     testing:         |                       |
|     extraction       |     different        |                       |
|                      |     testing method   |                       |
| -   Specimen         |                      |                       |
|     handling         | -   Reinterpretation |                       |
|                      |     of previous      |                       |
| -   Amount obtained  |     results: no new  |                       |
|                      |     test is          |                       |
| -   Quality of       |     performed, but   |                       |
|     specimen         |     new knowledge    |                       |
|                      |     used to          |                       |
| -   Relevant         |     re-evaluate      |                       |
|     pathology        |     archived data    |                       |
|     reports          |                      |                       |
|                      | Results              |                       |
| -   Contextual       | interpretation       |                       |
|     reference        |                      |                       |
|     sample/sequence  | Results reporting    |                       |
|     availability     |                      |                       |
+----------------------+----------------------+-----------------------+