A SOP outlines the areas in which a practitioner possesses the particular knowledge, skills and experience to practise lawfully, safely, and effectively, while meeting professional standards and ensuring public safety [13]. A well-defined SOP is crucial for maintaining high-quality GC services by applying evidence-based professional practice [14]. Complementing the SOP, a code of ethics (COE) provides guidelines that clarify and uphold the profession’s goals, values and standards. The COE helps practitioners act ethically and be accountable in their professional duties. A global review of SOPs and COEs can inform the development of these frameworks in local contexts, allowing for the integration with our unique societal and cultural factors of the community. While COEs for genetic counsellors worldwide share many similarities, they also reflect differences in their emphasises due to cultural or regulatory variations. While recognised professions are bound by the laws with their SOPs set by licensing rules, healthcare professions without a full registration system base their practice largely upon society-based professional bodies (Table 3).

Table 3 Scope of practice and code of ethics provided by professional genetic counselling organsations

The US has been the leading pioneer in the development of the GC profession since the establishment of the NSGC in 1979 (ref. [15]), which has played a crucial role in shaping the profession. The United Kingdom (UK) established the Association of Genetic Nurses and Counsellors (AGNC) in the late 1980s, linking accredited local training programmes to their registration system – the Genetic Counsellor Registration Board (GCRB), which transitioned under the auspices of the Academy of Healthcare Sciences (AHCS) in 2019, and is now represented on the Academy’s Healthcare Science Registration Council [16, 17]. In Europe, the European Board of Medical Genetics (EBMG) was established in 2012 and became a legal entity in 2014 (ref. [18]). In Africa, the Southern African Society for Human Genetics was formed in the early 1990s, while the Australasian Society of Genetic Counsellors was founded in 1993. In Asia, the Board of Genetic Counseling of India (BGC) was registered with the government of Telangana in 2015 (ref. [19]). Israel initiated its GC profession with the first master’s training program in 1997 (ref. [20]). Unlike most of the self-regulation systems in Western countries, Israel and Saudi Arabia in the Middle East have their own national GC regulation systems. However, albeit licensed, genetic counsellors in Israel are not recognised as an independent profession, and therefore, must work under the supervision of a medical geneticist [21]. In South Asia, Taiwan formed the Taiwan Association of Genetic Counselling in 1997 (ref. [22]), and Japan founded the Japanese Society of Genetic Counselors in 2001 (ref. [23]). The development of the GC in other regions, such as South Korea, the Philippines, Singapore, Thailand and Malaysia, is still in its infant stages. Mainland China is also in the very preliminary of GC development, but recent strong support from the Central Government has inspired breakthroughs in the field, including the founding of the Chinese Board of Genetic Counseling in 2015 to provide basic short-term training courses. However, without a systematic training framework, services provided by quasi-genetic counsellors in the region vary [24].

Consistency, diversity and controversies in the scope of practice for genetic counselling

In this global review and analysis, a broad consistency of practice duties is found, with some minor differences in practice due to social-cultural influences in different regions. In general, genetic counsellors around the globe adopted a similar counselling protocol, in which they build rapport and obtain informed consent; collect family and medical histories from the patients (and their families); assess and discuss potential risks for genetic conditions before genetic testing. An in-depth analysis of the information published also revealed some diversities in the approaches of genetic counsellors in interpreting and communicating the genetic test results with the patients; promoting psychological adaptations; and referring patients to further care when needed in post-test counselling sessions. Ordering genetic molecular tests, however, remains a controversial issue in many countries. Such ambiguity in GC practice poses potential implications not only for delineating the role of genetic counsellors but also for clinical application and health economics.

Language such as “identify,” “coordinate” and “facilitate” appropriate genetic and/or genomic testing and other investigations have been used in the SOP provided by the six professional bodies. Other than the 13 states that explicitly allowed/prohibited genetic counsellors from ordering tests [25], this may have allowed GC practitioners in other states, even without licensure law in the US, to order tests in the past, although one could argue the opposite before the SOP provided by NSGC was revised to allow genetic counsellors to “identify, order and coordinate” genetic laboratory tests [15]. Similar to the majority of states in the US, genetic counsellors in the UK and laboratory genetic counsellors working in Australia and New Zealand can order tests independently [13, 16]. Working with clinical geneticists, genetic counsellors in Israel and Africa can also order tests for their clients if needed [21, 26]. However, medical geneticists would usually order genetic tests; and, supervision or a co-signature from a clinical geneticist is often required for ordering tests, according to genetic counsellors practising in Canada [27] and Europe [28]. While the role of genetic counsellors in ordering tests is not specified in most of the Asian regions, the government in Singapore has emphasised that ordering tests should be done by registered medical practitioners, and not genetic counsellors, as their main duty is to provide GC services [29].

Ordering tests to diagnose or manage medical conditions is a process that requires genetic and/or genomic knowledge and coordination, hence, relying on medical geneticists or trained and experienced genetic counsellors to calculate risk, analyse inheritance patterns and select the most cost-effective and clinically appropriate tests [30, 31]. Due to the limitations in the SOP discussed, or following the routine GC practice, only 21.3% of genetic counsellors in Europe ordered genetic tests without other medical geneticists [28], and 26.2% in Australia ordered whole exome sequencing or whole genome sequencing [32]. However, a US study found that genetic tests were often mis-ordered, at an average of 61% per month, resulting from the 26% of requests for genetic test orders changed by genetic counsellors [33]. Such a high frequency of mis-orders could be due to some current practices in clinical settings. For example, a co-signature from a physician is needed to order a genetic test in Canada, although the physician did not meet the patient, and only learnt about the patient’s medical condition based on the letter from the genetic counsellor [27]. While test orders reviewed and facilitated by genetic counsellors could reduce costs to the healthcare system and patients, saving up to $48,000 per month [33], it is paramount to ensure the appropriate ordering of genetic tests, and educate non-geneticist practitioners and other healthcare professionals about genetic and genomic testing and associated concepts, as the integration of genetic testing into healthcare increasingly relies on multidisciplinary teams in this genomic era [34, 35].

Striving towards a shared decision-making model in genomic medicine

One primary and unique component of GC is the element of counselling, in this context, which may refer to the process of information-giving or communication as opposed to psychotherapy. While GC in the North America, Europe, UK, Australia and South Africa adopted a patient-centred psychotherapeutic process, process studies show that a didactic, teaching model-based process was preferred in the US, Canada and China [36,37,38,39]. In the currently dominant non-directive model of GC, the genetic counsellor provides support and guidance through the session on the diagnosis, natural history and inheritance of the genetic condition on a patients-centred based model, as it receives better patient outcomes compared to an information-based teaching approach [40]. In such an informed decision-making model, as much as the help provided by the genetic counsellor, the patient is required to reach his/her decision, rather than relying on the genetic counsellor in decision making. However, this process demands the patient’s competencies, such as knowledge, understanding and experiences, to balance the benefits and risks in order to reach a wise decision [41]. Given that genomic medicine is a relatively new topic, and its education system is yet to mature, genomic illiteracy could pose a challenge for decision-making, or even a high risk for erroneous decisions. The shared decision-making model allows genetic counsellors and clients to share information, reaching the best decision with them after integrating the needs, values and emotions of the client [41, 42], and therefore, has been considered and could be promoted to a global scale [43].

Ethical considerations in genetic counselling

Other than the SOP, the COE is another important document usually exist and adopt side by side with the SOP. Making reference to the published COEs in the four pioneering countries, i.e., US [44], UK [45], Canada [46] and Australasia [47], the most important ethical considerations for genetic counsellors are discussed. Complementary to the SOP, the COE acknowledges the importance of ethical conduct in four major areas of responsibility: towards themselves, their colleagues, clients and society. Personal responsibilities highlight the qualities and duties genetic counsellors value in themselves, emphasising integrity, competence, professionalism, veracity, accountability, dignity and self-respect. Maintaining, continuing, and improving one’s own professional education and competence is regarded as critical to staying informed on pertinent rules, policies, stances and standards for the practice of GC. Working with other colleagues, genetic counsellors should share their knowledge and experience for the wellbeing and benefit of clients and carers. Based on mutual respect, cooperation, support and caring, the relationship with colleagues should enhance the quality of service [48].

Responsibilities of genetic counsellors towards their clients focus on addressing their needs and expectations based on duties of care and respect for their autonomy, individuality, welfare and freedom. This respect is fundamental in fostering trust and ensuring that clients feel empowered in their healthcare choices [48]. Much emphasis was placed on the protection of patients’ privacy and confidentiality. While NSGC adopts a general approach, stating that genetic counsellors should maintain patients’ privacy and confidentiality unless “the disclosure is required by law,” AGNC is more stringent and affirms that disclosures should only be made with the consent of the service users, unless “it can be justified because of a significant risk to others.”[49] Under the system of common law, as in the US, UK (until the case of ABC v St George’s Healthcare NHS Trust and othersFootnote 1) and Australia, disclosure of genetic information is permitted but not obligatory if the advantages exceed the drawbacks. The judge in this case concluded that medical professionals, particularly those are with a close proximal relationship with the at-risk person, owe a legal duty to balance the rights and interests of another party and the public against the patient’s consent for prevailing confidentiality, when the disclosure involves a genetic relative whose risk of significant harm could be reduced by it [50]. This final verdict provides compelling evidence in Hong Kong that healthcare professionals have a duty of care that extends to performing the balancing exercise, and acting in accordance with the mutual benefits of their patients and any at-risk third parties [51]. In France, unlike the UK, patients have a unique legal obligated role to inform their family members of a significant and curable hereditary risk; they can either do this directly or delegate the responsibility to medical professionals. Genetic counsellors are encouraged to engage in ongoing professional education to stay informed about evolving practices and legal requirements related to confidentiality and patient rights [48].

For the public, genetic counsellors should work to advance the general welfare of society. This includes promoting public education, preventing genetic discrimination, promoting change in the field of GC, and advocating for equitable access to healthcare. Genetic counsellors should incorporate the latest research and advancements into their practice in their field, and raise awareness of new developments in genetic testing and counselling to the general public. For example, genetic counsellors should be well-prepared to accommodate the increasing demands of service in modern family structures, including sperm donors, surrogate mothers and sexual minority populations [52]. First, they have to be familiar with the updates, such as those in 2008 (ref. [53]) and 2016 (ref. [54]), to represent the non-binary gender identities in the pedigree at the patient-care levels. Subsequently, they could work toward aligning the practice regarding appropriate nomenclature that would be the pedigree’s most precise and concise interpretation to represent their patients’ gender identities [55]. One should aim at enhancing professionalism through consistency and competence, serving as an important source of reliable information and expert opinion on GC for relevant stakeholders. Genetic counsellors, thus, play a crucial role in preventing genetic discrimination by advocating for policies and laws that protect individuals from being discriminated against based on their genetic information [52]. In addition, they encourage legislation that aims to stop genetic discrimination and eliminate the use of genomic information as a claim for any form of discrimination.