The code block below illustrates how one might use # and // as comments in your logic and calculations.

This value you provided is not a number. Please try again.

This value you provided is not an integer. Please try again.

The value entered is not a valid Vanderbilt Medical Record Number (i.e. 4- to 9-digit number, excluding leading zeros). Please try again.

The value you provided must be within the suggested range

The value you provided is outside the suggested range

This value is admissible, but you may wish to double check it.

The value entered must be a time value in the following format HH:MM within the range 00:00-23:59 (e.g., 04:32 or 23:19).

This field must be a 5 or 9 digit U.S. ZIP Code (like 94043). Please re-enter it now.

This field must be a 10 digit U.S. phone number (like 415 555 1212). Please re-enter it now.

This field must be a valid email address (like joe@user.com). Please re-enter it now.

The value you provided could not be validated because it does not follow the expected format. Please try again.

Required format:

bw7CanfVjtVQr6ZZEx6ytrwHRCGoqTLYyor8nJAbrWYowWGipgPxFxcf

Assessment of providers' opinions towards LRS

Returning?

A A A

Assessment of genetics providers' opinions towards the use of long-read sequencing as a clinical diagnostic test.

We are seeking genetics providers who are currently ordering or have previously ordered diagnostic genetic testing. The goal of this survey is to assess the familiarity of genetics providers with long-read sequencing, an emerging sequencing technology, and collect opinions about the potential clinical utility of this technology. Your participation is valuable regardless of your experience with long-read sequencing. The survey includes questions about your understanding of and experience with long-read sequencing, as well as your general test ordering practices.

The survey should take approximately 10 - 15 minutes to complete. Participation in this survey is voluntary and you may stop the survey at any time.

This research is being performed as part of an IRB-approved/exempted research project through the University of Washington's Genetic Counseling Graduate Program. If you have any questions, please contact KC Kent at kckent@uw.edu or Danny E Miller at dm1@uw.edu.

Short-read vs. Long-read Sequencing

Current clinically available sequencing technologies (single gene, panels, exome and genome) are based on short-read sequencing technologies, such as Next Generation Sequencing (NGS), which results in sequence read lengths generally between 50-300 bp. For this survey, short-read sequencing will be defined as reads less than 1 kb in length. Newer sequencing technologies are being developed that allow for increased read lengths. For the purposes of this survey, long-read sequencing is defined as any technology that generates reads greater than 1 kb that also include information about epigenetic modifications like CpG methylation. Long-read sequencing is not currently offered as a clinical diagnostic test. However, it has been used in the research setting for cases in which current conventional clinical diagnostic testing has been negative or hasn't completely explained a patient's clinical presentation.

This survey is intended to assess your familiarity with long-read sequencing and collect your opinions about the potential clinical utility of this technology. For all scenarios, imagine a hypothetical undiagnosed patient you might see in your practice with limited family history.

By completing this survey, you are consenting to participate in this study.

Have you ever ordered genetic testing for direct patient care?

* must provide value

Yes

reset

If yes, have you ever ordered whole exome (WES) or whole genome sequencing (WGS) for direct patient care?

Yes - WES only

Yes - WGS only

Yes - Both WES and WGS

reset

Do you feel that you understand the description above defining the difference between short- and long-read sequencing?

* must provide value

1 (not at all)

2 (a little)

3 (somewhat)

4 (a lot)

5 (expert)

reset

Prior to this survey, how would you rate your familiarity with long-read sequencing on a scale of 1 to 5?
(1 = least familiar; 5 = most familiar)

* must provide value

1 (not familiar)

2 (slightly familiar)

3 (moderately)

4 (very familiar)

5 (extremely familiar)

reset

Have you ever referred a patient for research-based long-read sequencing?

* must provide value

Yes

I'm not sure

reset

If yes, how negative or positive was that experience?

Very negative

Negative

Neutral

Positive

Very Positive

Not applicable

reset

[Optional] Please share any additional comments about your long-read sequencing experience(s).

Expand

Given your current knowledge base, how comfortable would you feel explaining long-read sequencing to a patient or a colleague?

1 (not at all comfortable)

2 (somewhat uncomfortable)

3 (neither comfortable nor uncomfortable)

4 (somewhat comfortable)

5 (very comfortable)

reset

Given your current knowledge base, how comfortable would you be counseling on the results of a long-read sequencing-based test?

1 (not at all comfortable)

2 (somewhat uncomfortable)

3 (neither comfortable nor uncomfortable)

4 (somewhat comfortable)

5 (very comfortable)

reset

This question asks about the technical capabilities of long-read sequencing:

In which of the following scenario(s) do you think long-read sequencing could be informative? [check all that apply]

Suspected chromosomal rearrangement

Missing variant cases: suspicion for an autosomal recessive condition with one pathogenic variant identified in a gene of interest or no variants identified in a dominant or X-linked condition

Suspected mitochondrial disorder

Suspected imprinting disorder

Identification of a suspected mosaic variant

Evaluating a suspected repeat expansion disorder

Phasing known variants

Familial variant testing

Evaluating a suspected single gene disorder

Other (please specify)

None of the above

I don't know

Please specify "OTHER" technical capabilities of long-read sequencing

Expand

This question asks about the clinical utility of long-read sequencing:

If long-read sequencing was offered clinically, in which scenario(s) would you be most likely to consider ordering it for clinical care or diagnosis? [check all that apply]

As a first-line diagnostic test, regardless of the indication

When other clinical testing options have been exhausted

When the differential is broad with no specific test indicated

When rapid results are necessary for clinical care

For suspicion of genetically heterogeneous disease in which multiple tests may be required to make the diagnosis

When there is high suspicion of a single gene disorder

To resolve a structural variant identified by prior testing

To phase previously known variants

To confirm a familial variant

When there is clinical suspicion of mosaicism

To evaluate for a suspected imprinting disorder

To evaluate a suspected repeat expansion disorder

Other (please specify)

Never

I don't know

Please specify "OTHER" clinical utility of long-read sequencing

Expand

If long-read sequencing was available clinically, in which of the following cases would you consider ordering it as a first-line test? [check all that apply]

Isolated developmental delay (DD) or intellectual disability (ID)

Multi-system disease

Multiple congenital anomalies

Critical illness

Broad differential

Parents unavailable for comparators

Other (please specify)

Never

I don't know

Please specify "OTHER" cases in which you would consider ordering long-read sequencing as a first-line test?

Expand

You have selected an option that triggers this survey to end right now.

To save your responses and end the survey, click the 'End Survey' button below. If you have selected the wrong option by accident and/or wish to return to the survey, click the 'Return and Edit Response' button.