Table 6.

Frequently asked questions about the legal implications of genetic testing.

Topic	Examples from countries with legislation on genetic testing	Suggestion on how to address this issue in countries where no legislation is in place
Who is qualified to order genetic testing?	Diagnostic: any clinician (e.g. US, many EU countries)	Any medical practitioner
	Predictive: medical geneticist or medical specialist (e.g. most countries in EU)	Specialist in the condition being tested
Who should communicate the genetic testing result to the individual?	Requesting clinician or – optionally – a medical geneticist (e.g. most countries in EU)	Practitioner who ordered genetic testing or a genetic counsellor / medical geneticist
Who in addition to the individual should be made aware of the genetic testing result?	Doctors: Practitioners who ordered genetic testing receive report. Other practitioners involved in treatment of an individual can or should be informed according to individual consent. (e.g. most countries in EU)	Practitioner who ordered genetic testing receives report. Other practitioners involved in treatment of an individual should be informed according to individual consent
	Relatives: Delivery of information to relevant family members is usually not regulated and is in responsibility of the index individual or his/her legally appointed guardian. Genetic counselling is then offered upon request.	Delivery of information to relevant family members is the responsibility of the index individual. Genetic counselling should then be offered upon request.
	Insurances/employer: National regulations on delivery of information to health care providers or employers differ. Some countries have legislation that prohibits health care providers and insurers from requesting or utilizing genetic testing results. (e.g. UK, USA, Switzerland)	Health care providers should have access and options restricted to utilize genetic testing results.
What sort of secondary findings can be detected and to what extent should they be reported?	Handling of secondary findings usually depends on individual consent. Extent, definition, integrity and screening quality of relevant additional findings are usually not regulated by legislation and varies greatly between testing laboratories.	Depending on the individual’s consent, actionable secondary findings (i.e. according to ACMG guidelines; Richards et al., 2015 [39]) should actively be screened for by the laboratory with same comprehensive screening quality as the primary diagnostic genetic testing approach. Potential results should be communicated to the individual by a genetic counsellor or medical geneticist. Non-actionable secondary findings should not be looked for and not be reported back.
What happens if a genetic testing result questions assumed family relations?	Questioning or confirmation of genetic relations is not the subject of medical genetic but rather of forensic testing. There may be various reasons for discordant findings, e.g. sample mix-up, semen or egg donation, adoption, bone marrow transplantation. Handling of discordant findings from genetic testing is usually not regulated by legislation.	It is advisable to communicate that a genetic testing approach was inconclusive than to actively question family relations.
Should a negative genetic test result be re-evaluated at a later time and how should a potentially novel result be managed?	Re-evaluation of negative genetic testing is usually not regulated by legislation and is offered by some testing laboratories upon request.	Re-evaluation of negative genetic testing should be possible upon request after, e.g. after a few years. Novel results (diagnostic or incidental findings) should be managed as in normal diagnostic settings. It is advisable to address this issue in the individual consent form.
Will genetic material be stored after genetic testing?	Accredited diagnostic laboratories are obligated to store DNA (or any patient specimen) for a specified period of time, as part of their laboratory accreditation and quality management systems. Storage of DNA obtained for diagnostic testing may not be regulated by the country’s legislation. However, the patient’s consent is usually required for future use of the DNA or the generated data (re-analysis, re-testing, research etc.).	The individual should be offered the option to consent for unlimited storage of tissue / DNA sample.
Will individual records be stored after genetic testing?	Diverse spectrum of legislation with respect to time scale until individual data will be deleted.	The individual should be offered the option to consent for unlimited storage of records.
Can a laboratory perform an upload of anonymized genetic findings to e.g. population databases?	Some countries have regulations that allow or even require an upload of anonymized variants to variant databases without particular individual consent. (e.g. Germany)	An upload of anonymized variants to variant databases without individual consent is desirable, however, countries will have variable ethical requirements often based on cultural beliefs that need to be considered.