Table 1 Domains and attribute types.

Characteristics of genomic information

Disease risk

The risk of developing a health condition in the future.

Actionability

The availability of interventions for the health condition indicated by the variant.

Disease severity

Whether the health condition has severe consequences.

Hereditary risk

The risk of inheriting disease genes or diseases to offspring.

Test validity

Whether the laboratory can accurately detect variant genes and predict the relationship between these genes and disease risks.

Side effects

This refers to the negative impacts brought about by the genetic testing technology itself (excluding the effects caused by the test results).

Disease onset age

This refers to the age at which the disease is predicted to occur.

Impacts on recipients

Psychological harms

The genomic information causes psychological harms to the recipient.

Information overload

There is so much genomic information that recipient is not able to process.

Discrimination

Losing the eligibility to be covered by insurance or being discriminated against when interacting with others due to the carrier status of a pathogenic variant.

Privacy

Personal privacy is compromised.

Impacts on family

Stress for relatives

The genomic information causes psychological harms to the relatives of the patient.

Financial burden to family

The cost of GS and subsequent interventions can place a financial burden on your family.

Guilt about disease risk

The parents may feel guilty about the disease risk inherited to their child.

Rights

Selective receipt

Whether the patient has the right to selectively receive genomic information.

Receive all information

Whether the patient has the right to know all genomic information.

Service process

Professional

Whether the doctor’s service is professional, whether their operation is standard.

Communication (Pre-GS & Post-GS)

Whether the physicians have communicated with you before GS, and explained to you the concept of GS services and possible risks.

The approaches include fact-to-face meetings, virtual meetings, telephones, emails, and mails.

Feedback time

How long will it take to wait for the results and whether they are timely.

Targeted

Whether GS targets specific diseases.

Psychological support

Whether physicians provide psychological support for patients during the communication of genomic results.

Process location

The place where GS was done.

Informed consent form

Whether the informed consent is complete and accurate.

Physician attitude

The doctor’s attitude during sequencing, whether positive or negative.

Financial factors

Cost

The cost of GS and result interpretation.

Insurance coverage

The impact of genetic sequencing results on the insurance coverage and reimbursement rates for the tested individual.