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. 2021 Mar 11;12(2):277–290. doi: 10.1007/s12687-021-00514-7

Table 1.

Overview of clinical genetics in Estonia, Finland, and the Netherlands in terms of the key elements of culture (how we think), structure (how we organize), and practice (what we do).

Level Component Estonia Finland The Netherlands
Healthcare system (landscape) Accessibility and financing

Public (private as a choice), mainly financed through fund by employers

Largely insurance-based payment

Public (private as a choice), through fragmented health financing arrangements (by municipalities, insurance, employers, and households)

Largely publicly funded, with relatively small patient fixed fees

Mainly public through insurers, with market-based pricing

Largely insurance-based payment (as basic insurance is obligatory)

Genetic services (regimes) - culture Goal of clinical genetics Diagnostics based on clinical symptoms, with increasingly wider and pre-symptomatic screening with whole exome/genome sequencing for the benefit of the individual as well as for research purposes.

Diagnostics based on clinical symptoms; early use of panels and whole exome sequencing increasing.

Plans to extend use of genomic data for other healthcare goals of the individual as well as for research (according to the present draft Genome Act)

Diagnostics based on clinical symptoms, mainly targeted genetic testing to confirm diagnosis. Early use of panels and whole exome sequencing increasing for some indications (when proven cost-effective or for research purposes).

Plans to study impact of use of genetic data for other healthcare goals.

Roles and responsibilities in clinical genetic testing and counseling

Clinical geneticists primarily focus on diagnostics and cascade screening. To a limited extent, genetic testing is ordered by other specialty doctors beyond clinical geneticists.

Counseling performed by clinical geneticists

Clinical geneticists primarily focus on diagnostics and cascade screening. Diagnostic testing as well as informing about the results is also done beyond genetics clinics.

Counseling performed by clinical geneticists and genetic nurses (without specific training programs for genetic counseling)

Clinical geneticist as “treating physician.” In addition, other specialists who have subspecialized in genetics (e.g., onco-geneticists) increasingly order and counsel genetic testing at clinical genetic laboratories.

Counseling performed by clinical geneticists and specifically trained genetic counselors

Patient attitude Patient attitude is positive for genetic testing in general and towards biobanking. Patients are aware of their rights (already defined in legislation for 30 years) and usually positive towards population level approaches and medical research. Individual autonomy and informed decision-making are key values in all genetic services.
Genetic services (regimes) - practice Genetic testing & screening

Genetic tests purchased from best available source (including commercial laboratories); panels and whole exome sequencing are increasingly favored.

Practices undergoing transition and clinical pilots for pre-symptomatic screening for monogenic disorders are introduced through biobank participants (Alver et al. 2019; Leitsalu et al. 2020)

Population screening for some hereditary disorders through publicly funded and coordinated (cancer, newborn, and prenatal) screening programs

Genetic tests purchased from best available source (including commercial laboratories); panels and whole exome sequencing are increasingly favored.

Practices undergoing change, mainstreaming of genetics is happening and clinical pilots for pre-symptomatic screening for complex disorders are planned in biobank participants

Population screening for some hereditary disorders through publicly funded and coordinated (cancer, newborn, and prenatal) screening programs

Genetic testing generally confined to clinical genetic lefts; mainly targeted sequencing approach with whole exome sequencing/whole genome sequencing increasingly applied for selected patient groups

Practices adhering to dynamics, mainstreaming is slowly happening and studies on impact of clinical genetic pre-symptomatic screening are initiated locally

Population screening for some hereditary disorders through publicly funded and coordinated population (cancer, newborn, and prenatal) screening programs

Genetic services (regimes) – structure Organization

2 clinical genetic departments (Tartu, Tallinn)

National electronic health records, health registries, centralized laboratory services, foreign testing available, and reimbursed upon need.

Public health centrally coordinated with local service provision.

Biobanking involving 20% of adult population with data from genome-wide arrays and whole genome sequencing.

5 clinical genetics lefts + a small one for Swedish speaking minority; some private clinical geneticists.

Laboratory services purchased from various sources including abroad, often university hospital laboratories.

Public health centrally coordinated with local service provision.

Biobanking aiming at 10% of the population by 2023 with standard genome wide arrays of all and whole-exome/-genome sequencing of part of the samples; at present only for research purposes

National Health Registries

9 clinical genetic lefts, each clinical genetic left autonomously builds sequencing and data infrastructure.

Public health centrally coordinated with local service provision.

Local—sometimes linked—biobanks, but no national infrastructure.

Legislation/regulation

Estonian Human Genes Research Act (2000)

General Data Protection Regulation (2018)

Act on the Status and Rights of Patients (1992)

Biobank Act (2012)

General Data Protection Regulation (2018)

Healthcare Professionals Act

(1987)

Exceptional medical procedures Act (1978)

General Data Protection Regulation (2018)

Electronic health records and data-exchange Linking biobank with electronic health record, but limited data transfer from biobanking to healthcare yet Local electronic health record systems interacting via National Patient Data Repository which enables citizens to partly see and control their data. At present, no connection to biobank data Local electronic health record systems, increasingly exchanged between healthcare providers