Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. The process integrates:
- Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
- Education about inheritance, testing, management, prevention, resources
- Counseling to promote informed choices and adaptation to the risk or condition.
History of genetic counseling
The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called “genetics”. Heredity became intertwined with social reforms when the field of modern eugenics took form. Although initially well-intentioned, ultimately the movement had disastrous consequences. Many states in the United States had laws mandating the sterilization of certain individuals, others were not allowed to immigrate and by the 1930s these ideas were accepted by many other countries including in Germany where euthanasia for the “genetically defective” was legalized in 1939. This part of the history of genetics is at the heart of the now “non directive” approach to genetic counseling.
Sheldon Clark Reed coined the term genetic counseling in 1947 and published the book Counseling in Medical Genetics in 1955. Most of the early genetic counseling clinics were run by non-medical scientists or by those who were not experienced clinicians. With the growth in knowledge of genetic disorders and the appearance of medical genetics as a distinct specialty in the 1960s, genetic counseling progressively became medicalized, representing one of the key components of clinical genetics. It was not, though, until later that the importance of a firm psychological basis was recognized and became an essential part of genetic counseling, the writings of Seymour Kessler making a particular contribution to this. The first master's degree genetic counseling program in the United States was founded in 1969 at Sarah Lawrence College in Bronxville, New York. In 1979, the National Society of Genetic Counselors (NSGC) was founded.
The examples and perspective in this section deal primarily with the United States and do not represent a worldwide view of the subject. (January 2019) (Learn how and when to remove this template message)
Genetic counselors work in a wide variety of patient-facing and non patient-facing settings.
Clinical genetic counselors may provide general care, or specialize in one or more areas. Examples include:
- Prenatal and pre-conception – for women and their partners who are pregnant or thinking about becoming pregnant
- Pediatric – for children with genetic, or suspected genetic, conditions and their family members
- Cancer – for patients with cancer and/or their family members
- Cardiovascular – for patients with diseases of the heart or circulatory system and/or their family members
- Neurology – for patients with diseases of the brain and nervous system and/or their family members
- Assisted reproductive technology / infertility – for couples struggling with fertility or who are carriers of genetic diseases
- Psychiatric – for patients living with mental illness and/or their family members
Outside the clinic, genetic counselors work in areas such as laboratories, research, education, public health settings, and corporate environments. Examples of roles include:
- Laboratory – Utilization management, provider and patient support, variant classification, and reporting
- Research – Coordinating research studies, patient recruitment, data collection and interpretation, manuscript preparation and grant writing
- Education – Professors, directors of genetic counseling training programs
- Public health – Newborn screening programs, population screening programs
- Non-profit – Patient support and advocacy organizations
- Corporate – Dedicated services for employees and their families
A genetic counselor is an expert with a Master of Science degree in genetic counseling. Programs in North America are accredited by the Accreditation Council for Genetic Counseling (ACGC). There are currently 45 accredited programs in the United States, four accredited programs in Canada, and three programs with the intent to become accredited. Students enter the field from a variety of disciplines, including biology/biological sciences and social sciences such as psychology. Graduate school coursework includes topics such as human genetics, embryology, ethics, research, and counseling theory and techniques. Clinical training including supervised rotations in prenatal, pediatric, adult, cancer, and other subspecialty clinics, as well as non-patient facing rotations in laboratories. Research training typically culminates in a capstone or thesis project.
Graduates from an American Board of Genetic Counseling (ABGC) accredited program who have met specific criteria are eligible to take the examination which is offered twice per year by the ABGC. Although not every company requires its counselors to possess a certification, the certification shows that the practitioner has met the standards "necessary to provide competent genetic counseling services".
As of May 2019, 29 states have passed genetic counselor licensure bills that require genetic counselors to meet a certain set of standards to practice. These states are Alabama, Arkansas, California, Connecticut, Delaware, Georgia, Hawaii, Idaho, Illinois, Indiana, Iowa, Kentucky, Louisiana, Massachusetts, Michigan, Minnesota, Nebraska, New Hampshire, New Jersey, New Mexico, North Dakota, Ohio, Oklahoma, Pennsylvania, South Dakota, Tennessee, Utah, Virginia, and Washington. Almost every other state in the United States is in the process of obtaining genetic counseling licensure.
Although genetic counseling has existed for over four decades, the first licenses for genetic counselors were not issued until 2002. Utah was the first state to do so. The American Society of Human Genetics (ASHG) has since encouraged more states to license genetic counselors before they are allowed to practice. ASHG argues that requiring practitioners to go through the necessary training and testing to obtain a license will ensure quality genetic services as well as allow for reimbursement for counselors’ services. Laws requiring licensure ensure that "professionals who call themselves genetic counselors are able to properly explain complicated test results that could confuse patients and families making important health decisions".
Reimbursement and recognition
Insurance companies usually do not reimburse for unlicensed genetic counselors’ services. Patients who may benefit from genetic counseling may not be able to afford the service due to the expensive out-of-pocket cost. In addition, licensure allows genetic counselors to be searchable in most insurance companies’ databases which gives genetic counselors increased opportunities for earning revenue and clients the opportunity to see "the level of coverage insurers provide for their services".
The Center for Medicare and Medicaid Services (CMS) does not currently recognize genetic counselors as healthcare providers and therefore does not reimburse for genetic counseling services unless they are provided by a physician or nurse practitioner. On June 12, 2019, H.R. 3235 "Access to Genetic Counselor Services Act of 2019," was introduced to the U.S. House of Representatives by U.S. Rep. Dave Loebsack (D-Iowa) and U.S. Rep. Mike Kelly (R-Pennsylvania). H.R. 3235 would authorize CMS to recognize certified genetic counselors as healthcare providers and to cover services furnished by genetic counselors under part B of the Medicare program. Genetic counselors are those licensed by states as such, or, for those in states without licensure, the Secretary of Health and Human Services will set criteria through regulation (likely ABGC certification). Genetic counselors would be paid at 85% of the physician fee schedule. Other providers currently providing genetic counseling services will not be affected by the bill.
Counseling session structure
The goals of genetic counseling are to increase understanding of genetic diseases, discuss disease management options, and explain the risks and benefits of testing. Counseling sessions focus on giving vital, unbiased information and non-directive assistance in the patient's decision-making process. Seymour Kessler, in 1979, first categorized sessions in five phases: an intake phase, an initial contact phase, the encounter phase, the summary phase, and a follow-up phase. The intake and follow-up phases occur outside of the actual counseling session. The initial contact phase is when the counselor and families meet and build rapport. The encounter phase includes dialogue between the counselor and the client about the nature of screening and diagnostic tests. The summary phase provides all the options and decisions available for the next step. If patients wish to go ahead with testing, an appointment is organized and the genetic counselor acts as the person to communicate the results. Result delivery can happen both in person or via phone. Often counselors will call out results to avoid patients having to come back in as results can take weeks to be processed. If further counseling is needed in a more personal setting, or it is determined that additional family members should be tested, a secondary appointment can be made.
Reasons for testing and sub-specialties
Diagnostic testing occurs when an individual is showing signs or symptoms associated with a specific condition. Genetic testing can be used to arrive at a definitive diagnosis in order to provide better prognosis as well as medical management and/or treatment options. Testing can reveal conditions that—while debilitating without treatment—can be mild or asymptomatic with early treatment (such as phenylketonuria). Genetic tests are available for a number of genetic conditions, including but not limited to: Down syndrome, sickle cell disease, Tay–Sachs disease, muscular dystrophy. Establishing a genetic diagnosis alerts any other at-risk individuals in the family to consider testing, if appropriate.
Any reproductive risks (e.g. a chance to have a child with the same diagnosis) can also be explored after a diagnosis. Many disorders cannot occur unless both the mother and father pass on their genes, such as cystic fibrosis; this is known as autosomal recessive inheritance. Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome. Yet other genetic disorders are caused by an error or mutation occurring during the cell division process (e.g. aneuploidy) and are not hereditary.
Screening tests are often used prior to diagnostic testing, designed to separate people according to a fixed characteristic or property, with the intention of detecting early evidence of disease. For example, if a screening test during a pregnancy (such as maternal blood screening or ultrasound) reveals a risk of a health issue or genetic condition, patients are encouraged to receive genetic counseling to learn additional information regarding the suspected condition and about their options with discussion of management, therapy and treatments available for the conditions, including those after delivery, and those during pregnancy, such as the option to terminate the pregnancy. Patients may decline additional screening and testing, elect to proceed to diagnostic testing, or pursue further screening tests to refine the risk during the pregnancy.
Presymptomatic or predictive testing occurs when an individual knows of a specific diagnosis (typically adult onset) in their family and has other affected relatives, but they themselves do not manifest any clinical findings at the time when they seek testing. The decision about whether or not to proceed with presymptomatic testing should entail a thoughtful approach and consideration of various medical, reproductive, social, insurance, and financial factors, with no “right” or “wrong” answer. Availability of treatment and medical management options for each specific diagnosis, as well as the genetics and inheritance pattern of the particular condition should be reviewed as inherited conditions can have reduced penetrance.
Insurance and legal issues should also be discussed during genetic counseling. There are laws in the United States such as GINA (Genetic Information Non-discrimination Act) and ACA that provide certain protections against discrimination for individuals with genetic diagnoses.
Adult or general genetics clinics serve patients who are diagnosed with genetic conditions that begin to show signs or symptoms in adulthood. Many genetic conditions have varying ages of onset, ranging from an infantile form to an adult form. Genetic counseling can facilitate the decision making process by providing the patient/family with education about the genetic condition as well as the medical management options available to individuals at risk of developing the condition. Having the genetic information of other members of the family opens the door to asking important questions about the pattern of inheritance of specific disease‐causing mutations. Whilst there is a wealth of literature that describes how families communicate information surrounding single genes, there is very little which explores the experience of communication about family genomes. Adult-onset disorders may overlap multiple specialties.
Genetic counseling is an integral part of the process for patients utilizing preimplantation genetic testing (PGT), formerly called preimplantation genetic diagnosis. There are three types of PGT and all require in vitro fertilization (IVF) using assisted reproductive technology (ART). PGT-M, for monogenic disorders, involves testing embryos for a specific condition before it is implanted into the mother. This technique is currently being done for disorders with childhood onset, such as Cystic Fibrosis, Tay-Sachs and Muscular Dystrophy, as well as adult-onset conditions, including Huntington's Disease, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome. PGT-SR, for structural rearrangements, involves testing embryos to establish a pregnancy unaffected by a structural chromosomal abnormality (translocation). PGT-A, for aneuploidy, was formerly called preimplantation genetic screening, and involved testing embryos to identify any de novo aneuploidy. The indications to carry out PGT-A are: previous aneuploidy in the couple, implantation failure, recurrent miscarriage, severe male factor or advanced maternal age. Finally, PGT seems to be: safe for the embryo, trustable in the diagnosis, more efficient from the reproductive point of view and cost-effective.
Genetic counseling can also involve medical evaluation and clinical work-up for couples with infertility and/or recurrent pregnancy loss, as these histories can be associated with parental chromosome aberrations (such as inversions or translocations) and other genetic conditions.
A rapidly expanding field in genetic counseling is cardiovascular genetics. More than 1 in 200 people have an inherited cardiovascular disease. Hereditary cardiac conditions range from common diseases, such as high cholesterol and coronary artery disease, to rare diseases like Long QT Syndrome, hypertrophic cardiomyopathy, aortic and vascular diseases. Genetic counselors who specialize in cardiovascular disease have developed skills specific to the management of and counseling for cardiovascular disorders. Cardiovascular genetic counselors are also integral in local and national efforts to prevent sudden cardiac death (the leading cause of sudden death in young people) by identifying patients with known or suspected heritable cardiovascular diseases and promoting cascade family screening or testing of at-risk relatives.
Common referral reasons include:
- Cardiomyopathy, including, hypertrophic cardiomyopathy and familial idiopathic dilated cardiomyopathy
- Arrhythmia, including Long QT syndrome and Brugada syndrome
- Vascular disease, including Marfan syndrome and aortic aneurysm and/or dissection (<50 years old)
- Other heritable heart defects (e.g. conotruncal defects, left ventricular outflow tract defects)
- Familial hypercholesterolemia
- Family history of unexplained sudden death
Hereditary cancer genetics
Cancer genetic counselors see individuals with a personal diagnosis and/or family history of cancer or symptoms of an inherited cancer syndrome. Genetic counselors take a family history and assess for hereditary risk, or risk that can be passed down from generation to generation. If indicated, they can coordinate genetic testing, typically via blood or saliva sample, to evaluate for hereditary cancer risk. Personalized medical management and cancer screening recommendations can be provided based on results of genetic testing and/or the family history of cancer. While most cancers are sporadic (not inherited), some are more likely to have a hereditary factor, particularly when occurring at young ages or when clustering in families. These include common cancers such as breast, ovarian, colon and uterine cancers, as well as rare tumor types. General referral indications can include, but are not limited to:
- Personal or family history of cancer with unusually young age of onset (e.g. breast cancer under age 45, colon cancer under age 50)
- Diagnosis of a tumor or cancer with a high likelihood to be hereditary (e.g. male breast cancer, triple negative breast cancer, ovarian cancer, metastatic or high-grade prostate cancer, pancreatic cancer, retinoblastoma, adrenocortical carcinoma, pleuropulmonary blastoma, neuroendocrine tumor, medullary thyroid cancer, pheochromocytoma or paraganglioma)
- Personal or family history of bilateral cancers (e.g., both breasts or both kidneys) or multiple primary tumors in one person
- Features associated with an inherited cancer syndrome (e.g. more than 10 adenomatous polyps, rare types of gastrointestinal polyps, such as hamartomatous polyps), or specific skin findings like café au lait macules or freckling on the lips
- Family history of related cancers clustered on the same side of the family (e.g. breast/ovarian, colon/uterine, sarcoma/leukemia/brain)
- Family history of a known inherited cancer syndrome (e.g. hereditary breast and ovarian cancer syndrome, hereditary non-polyposis colorectal cancer, Li-Fraumeni syndrome)
- Individuals of Ashkenazi Jewish ancestry with a personal and/or family history of breast, ovarian, or pancreatic cancer
- Possible germline (inherited) genetic mutation suggested by tumor profile testing
Genetic counselors specializing in neurogenetics are involved in the care of individuals who have or are at risk to develop conditions affecting the central nervous system (brain and spinal cord) or peripheral nervous system (the nerves that leave the spinal cord and go to other places in the body, such as the feet and hands, skeletal muscles, and internal organs). Effects of these conditions can lead to various impairments some examples of which include cognitive decline, intellectual disability, seizures, uncontrolled movements (e.g. ataxia, chorea), muscle weakness, paralysis, or atrophy. Examples of neurogenetic disorders include:
- Brain malformation syndromes, including lissencephaly and polymicrogyria
- Brain tumor predisposition syndromes, including Neurofibromatosis 1 and 2
- Epilepsy (seizures)
- Hereditary motor neuron diseases, including amyotrophic lateral sclerosis (ALS/Lou Gehrig's disease) and spinal muscular atrophy
- Hereditary neuropathies, including Charcot-Marie-Tooth disease
- Intellectual disabilities, developmental delays, and autism spectrum disorder
- Leukodystrophy (hereditary white matter diseases)
- Memory and other cognitive disorders, including Alzheimer disease and frontotemporal dementia
- Movement disorders, including hereditary ataxia, spastic paraplegia, Huntington disease, and Parkinson disease
- Neuromuscular disorders, including muscular dystrophies, congenital myopathies, and congenital myasthenic syndromes
Pediatric genetic counseling can be indicated for newborns, infants, children and their families. General referral indications can include:
- Birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart defects, spina bifida)
- Intellectual disability of unknown cause, learning disabilities, or autism
- Sensory impairments (vision, hearing)
- Metabolic disorders (PKU, galactosemia)
- Known/Suspected genetic disorders (e.g., Down syndrome, Cystic Fibrosis, Muscular Dystrophy)
Prenatal genetics involves services for women either during or prior to a pregnancy.
General indications for referral to genetic counseling in the preconception or prenatal setting may include, but are not limited to:
- Advanced maternal age (35 years old or older at time of delivery)
- Advanced paternal age
- Current pregnancy with anomalies identified by ultrasound (e.g. increased nuchal translucency measurements)
- Current pregnancy with an abnormal genetic screening test or test result
- Current pregnancy with risk of or concern for maternal exposures, such as medications, radiation, drugs/alcohol, or infections
- Consanguineous union (cousins or otherwise blood related)
- Family history of an inherited genetic condition or chromosome abnormality
- Genetic carrier screening for recessive and/or X-linked diseases
- History of a previous child with a birth defect, developmental delay, or other genetic condition
- History of infertility, multiple unexplained miscarriages or cases of unexplained infant deaths
- Molecular test for single gene disorder
Prenatal genetic counseling may help with the decision-making process by walking patients through examples of what some people might do in similar situations, and their rationale for choosing that option. Decisions made by patients are affected by factors including timing, accuracy of information provided by tests, and risk and benefits of the tests. This discussion enables patients to place the information and circumstances into the context of their own lives, and in the context of their own values. They may choose to undergo noninvasive screening (e.g. ultrasound, triple screen, cell-free fetal DNA screening) or invasive diagnostic testing (amniocentesis or chorionic villus sampling). Invasive diagnostic tests possess a small risk of miscarriage (1–2%) but provide more definitive results. Testing is offered to provide a definitive answer regarding the presence of a certain genetic condition or chromosomal abnormality.
Psychiatric genetic counseling is a sub-specialty within genetic counseling focused on helping people living with a psychiatric disorder and/or their family members understand both the genetic and environmental factors that contributed to their illness and address associated emotions such as guilt or self-blame. Genetic counselors also discuss strategies to promote recovery and protect mental health and address any questions on chances for recurrence in other family members. While currently there is no single gene solely responsible for causing a psychiatric disorder, there is strong evidence from family, twin studies, and genome-wide-association studies that both multiple genes and environment interact together. Like other areas of genetic counseling, patients at all different stages of life (pediatric, adult, prenatal) can have psychiatric genetic counseling. Since the etiology of psychiatric disorders is complex and not fully understood, the utility of genetic testing is not as clear as it is in Mendelian or single gene disorders. Research has shown that individuals who receive psychiatric genetic counseling have significant increases in feelings of empowerment and self-efficacy after genetic counseling.
Psychiatric genetic counselors can help "dispel mistaken notions about psychiatric disorders, calm needless anxiety, and help those at risk to draw up a rational plan of action based on the best available information".
There are different approaches to genetic counseling. Some counselors favor a more purely psycho-educational approach while others incorporate more psycho-therapeutic techniques. Genetic counseling is psycho-educational as patients "learn how genetics contributes to their health risks and then process what this means and how it feels."
"Whether the process of genetic counseling is a form of psychotherapy is up for debate". The relationship between the client and counselor is similar as are the goals of the sessions. As a psychotherapist aims to help his client improve his wellbeing, a genetic counselor also helps his client to address a "situational health threat that similarly threatens client wellbeing". Due to the lack of studies which compare genetic counseling to the practice of psychotherapy, it is hard to say with certainty whether genetic counseling can be "conceptualized as a short-term, applied, specific type of psychotherapy". However, there few existing studies suggest that genetic counseling falls "significantly short of psychotherapeutic counseling" because genetic counseling sessions primarily consist of the distribution of information without much emphasis placed on explaining any long-term impacts to the client.
Genetic counselors as support
Genetic counselors provide supportive counseling to families, serve as patient advocates and refer individuals and families to community or state support services. They serve as educators and resource people for other health care professionals and for the general public. Many engage in research activities related to the field of medical genetics and genetic counseling. When communicating increased risk, counselors anticipate the likely distress and prepare patients for the results. Counselors help clients cope with and adapt to the emotional, psychological, medical, social, and economic consequences of the test results.
Each individual considers their family needs, social setting, cultural background, and religious beliefs when interpreting their risk. Clients must evaluate their reasoning to continue with testing at all. Counselors are present to put all the possibilities in perspective and encourage clients to take time to think about their decision. When a risk is found, counselors frequently reassure parents that they were not responsible for the result. An informed choice without pressure or coercion is made when all relevant information has been given and understood.
After counseling for other hereditary conditions, the patient may be presented with the option of having genetic testing. In some circumstances no genetic testing is indicated, other times it may be useful to begin the testing process with an affected family member. The genetic counselor also reviews the advantages and disadvantages of genetic testing with the patient.
Attitudes toward genetic counseling and genetic testing
Many studies have examined the attitudes of the lay public toward genetic counseling and genetic testing. Barriers to obtaining genetic counseling include lack of understanding of genetics by both patients and healthcare providers, concerns about cost and insurance, and fears of stigma and/or discrimination.
No simple correlation has been found between the change in technology to the changes in values and beliefs towards genetic testing.
Genetic Counseling in the Media
In 2018, there are nearly 7000 genetic counselors practicing worldwide, across at least 28 countries.
Genetic counseling in China (mainland) has been primarily provided by pediatricians or obstetricians for prenatal or birth defect diagnoses. Most genetic tests can only be performed in academic institutions as research tests or in commercial direct-to-consumer companies for non-clinical use.
In China, genetic counseling is steered by the Chinese Board of Genetic Counseling (CBGC), a not-for-profit organization. CBGC is composed of senior experts engaged in genetic education and research. CBGC is committed to establishing standardized procedures of genetic counseling, training qualified genetic counselors, improving health for all, and reducing the incidence of birth defects. CBGC was established in 2015 and is the major professional organization for genetic counselors in mainland China, providing training through short term online and in-person lectures, educational conferences, and certification for trainees.
Genetics education in China began in the 1980s when selected medical schools began offering genetics courses that focused predominantly on molecular genetics and had limited clinical content. At present, there are no official master's level graduate programs in genetic counseling or clinical genetics in China, and there is great variability in the duration and content of genetics curricula among medical schools and professional organizations.
The Chinese Ministry of Health has not yet recognized genetic counselors as an independent health care occupation. There are no official statistics for the number of health care professionals (e.g., physicians, nurses, and lab technicians) who are providing genetic counseling services in China.
Genetic Counselling is a developing field in South Africa. Currently, there are about 20 registered genetic counsellors practicing in the country. In South Africa, genetic counsellors work within academic institutions, in the private health sector and more recently, private genetic laboratories. A few qualified genetic counsellors have been employed outside of the country or in other professions, owing to funding limitations that have impacted employment opportunities, particularly in the academic/public health sector.
The first Genetic Counselling Programme in South Africa started in 1989 at the University of the Witwatersrand in Johannesburg, in the Gauteng province. A second programme started in 2004 at the University of Cape Town in the Western Cape province. These are the only two programmes offering Masters level genetic counselling training in South Africa. Currently these courses are running at full capacity. This is a two-year degree and includes a research component. The majority of students enter the Masters programme with a science background but those with a psychology background are also be considered.
The Health Professions Council of South Africa (HPCSA) requires two years of internship. Often the first year forms part of the master's degree in Genetic Counselling and a further 12-month internship thereafter. Genetic Counsellors are required by law to register with the HPCSA in order to practice as genetic counsellors. At the end of the training period, registrants submit a portfolio to HPCSA for assessment. If successful, the intern will be registered with the HPCSA and will be able to practice as a Genetic Counsellor in South Africa.
There is a professional organisation for Genetic Counsellors in South Africa, Genetic Counselling South Africa (GC-SA), which provides information and guidance to the HPCSA and others regarding professional issues. The GCSA is a focus group of the South African Society of Human Genetics (SASHG).
The majority of Genetic Counsellors in the UK work in the National Health Service (NHS) in one of the 33 Regional Clinical Genetics Services (some renamed Genomic Medicine Centres in England), Scotland, Wales or Northern Ireland. Others work in specialist roles in the NHS, education, policy or research. A minority work in the private sector.
The Association of Genetic Nurses and Counsellors (AGNC) is the UK's professional organisation representing genetic counsellors, genetic nurses and non-medical, patient-facing staff working within the discipline of Clinical Genetics. There are currently (March 2018) 330 AGNC members within the UK. The AGNC is one of the constituent groups of the British Society for Genetic Medicine (BSGM).
The first 2-year MSc in Genetic Counselling program established in the UK was from the University of Manchester 1992, followed by Cardiff University in Wales in 2000. 2016 saw major changes in the way genetic counsellors are trained in England. A 3-year training programme funded by Health Education England, the Scientist Training Programme (STP) uses a combination of work-based training in Genomic Medicine Centres and a part-time MSc in Genetics (Genomic Counselling) from the University of Manchester. Recruitment is performed nationally through the National School of Healthcare Science (NSHCS). A 3-year part-time MSc in Genetic and Genomic Counselling is also now delivered by Cardiff University, through blended learning, with most of the teaching delivered online, alongside some short face-to-face teaching blocks in Wales. A 2-year MSc Genetic and Genomic Counselling program began at the University of Glasgow in Scotland in 2016. Prerequisites for acceptance on all the programmes include a degree in a relevant science or a nursing or midwifery qualification, and experience in a caring role. All genetic counselling training programmes are accredited by the UK Genetic Counsellor Registration Board (GCRB) and the European Board of Medical Genetics (EBMG).
Genetic counsellors in the UK are regulated through the Genetic Counsellor Registration Board (GCRB), although currently GCRB registration is voluntary. The GCRB registry was accredited in 2016 by the Professional Standards Authority under its Accredited Registers programme. Over 200 genetic counsellors are currently registered through the GCRB. Genetic Counsellors trained through the STP programme are expected to be eligible to apply for statutory regulation through the Health Care Professions Council and it is planned that soon there will be equivalence arrangements with the GCRB to ensure statutory regulation for GCRB registered genetic counsellors.
- Genomic counseling
- National Society of Genetic Counselors
- Whole genome sequencing
- Medical genetics
- Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL (April 2006). "A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report". Journal of Genetic Counseling. 15 (2): 77–83. doi:10.1007/s10897-005-9014-3. PMID 16761103.
- Veach PM, LeRoy BS, Bartels DM (2003). "Facilitating the Genetic Counselling Process".
- Uhlmann WR, Schuette JL, Yashar BM (2009). "A Guide to Genetic Counseling".
- "Sheldon Clark Reed (1910–2003)". The Embryo Project Encyclopedia.
- Reed SC (December 1974). "A short history of genetic counseling". Social Biology. 21 (4): 332–9. doi:10.1080/19485565.1974.9988131. PMID 4619717.
- "NYS Genetic Counseling Information Resource". www.nysgeneticcounselors.org. Retrieved 2018-09-12.
- Kessler S (May 1984). "Book Review: A Genetic Counseling CasebookA Genetic Counseling Casebook. Edited by Gordon ApplebaumEleanor and FiresteinStephen K.New York: Free Press, 1983. 291 pp.$19.95". Social Casework. 65 (5): 314–316. doi:10.1177/104438948406500509.
- "History of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College". Retrieved 2018-09-12.
- "The Embryo Project Encyclopedia". The National Society of Genetic Counselors (NSGC). Retrieved 2018-09-12.
- "National Society of Genetic Counselors : NSGC Professional Status Survey". www.nsgc.org. Retrieved 2018-10-11.
- "Accredited Programs". gceducation.org. Retrieved 2018-10-01.
- "National Society of Genetic Counselors : Interested in Becoming a Genetic Counselor". www.nsgc.org. Retrieved 2018-01-30.
- "How do I qualify for the exam?". American Board of Genetic Counseling. American Board of Genetic Counseling, Inc. Archived from the original on December 14, 2016. Retrieved December 4, 2016.
- "States Issuing Licenses for Genetic Counselors". National Society of Genetic Counselors. Retrieved 3 October 2018.
- "Genetic counselor licensure proponents call for more states to adopt licensing laws: Benefits of licensure extend to geneticists, counselors, and patients". American Journal of Medical Genetics. Part A. 170A (1): 8–9. January 2016. doi:10.1002/ajmg.a.37507. PMID 26768329.
- "Access to Genetic Counselor Services Act of 2019 (H.R. 3235)". GovTrack.us. Retrieved 2019-08-14.
- "Genetic Alliance Site". Retrieved 29 October 2010.
- Hodgson JM, Gillam LH, Sahhar MA, Metcalfe SA (February 2010). ""Testing times, challenging choices": an Australian study of prenatal genetic counseling". Journal of Genetic Counseling. 19 (1): 22–37. doi:10.1007/s10897-009-9248-6. PMID 19798554.
- Corpas M (June 2012). "A Family Experience of Personal Genomics". Journal of Genetic Counseling. 21 (3): 386–391. doi:10.1007/s10897-011-9473-7. PMID 22223063.
- Gilchrist DM (October 2002). "Medical genetics: 3. An approach to the adult with a genetic disorder". CMAJ. 167 (9): 1021–9. doi:10.1007/s10897-011-9473-7. PMC 134180. PMID 12403743.
- Goldberg-Strassler D, Cabey R, Armenti EM, Jordan A (September 2016). "Preimplantation genetic diagnosis (PGD) genetic counseling; but why? The patient experience". Fertility and Sterility. 106 (3 Supplement): e370. doi:10.1016/j.fertnstert.2016.07.1053. ISSN 0015-0282.
- "Preimplantation genetic testing". UpToDate.
- Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. (December 2013). "HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013". Heart Rhythm. 10 (12): 1932–63. doi:10.1016/j.hrthm.2013.05.014. PMID 24011539.
- Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, et al. (May 2018). "Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline". Journal of Cardiac Failure. 24 (5): 281–302. doi:10.1016/j.cardfail.2018.03.004. hdl:1805/15853. PMID 29567486.
- Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. (December 2011). "2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines". Circulation. 124 (24): e783–831. doi:10.1161/CIR.0b013e318223e2bd. PMID 22068434.
- Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. (October 2014). "2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)". European Heart Journal. 35 (39): 2733–79. doi:10.1093/eurheartj/ehu284. PMID 25173338.
- Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, et al. (June 2011). "Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia". Journal of Clinical Lipidology. 5 (3 Suppl): S1–8. doi:10.1016/j.jacl.2011.04.003. PMID 21600525.
- Gidding SS, Champagne MA, de Ferranti SD, Defesche J, Ito MK, Knowles JW, et al. (December 2015). "The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association". Circulation. 132 (22): 2167–92. doi:10.1161/CIR.0000000000000297. PMID 26510694.
- Schneider K (2011). Counseling About Cancer. New Jersey: John Wiley & Sons. ISBN 978-1118119914.
- "Genetic Testing for Hereditary Cancer Syndromes". National Cancer Institute. 2013-04-22. Retrieved 2016-03-25.
- "NCCN Clinical Practice Guidelines in Oncology". www.nccn.org. Retrieved 2018-09-30.
- Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, et al. (February 2015). "Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer". Journal of Clinical Oncology. 33 (4): 304–11. doi:10.1200/jco.2014.57.1414. PMC 4302212. PMID 25452441.
- Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, et al. (August 2016). "Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer". The New England Journal of Medicine. 375 (5): 443–53. doi:10.1056/nejmoa1603144. PMC 4986616. PMID 27433846.
- Holter S, Borgida A, Dodd A, Grant R, Semotiuk K, Hedley D, et al. (October 2015). "Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma". Journal of Clinical Oncology. 33 (28): 3124–9. doi:10.1200/jco.2014.59.7401. PMID 25940717.
- Varley JM, McGown G, Thorncroft M, James LA, Margison GP, Forster G, et al. (October 1999). "Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors". American Journal of Human Genetics. 65 (4): 995–1006. doi:10.1086/302575. PMC 1288270. PMID 10486318.
- Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, et al. (June 2014). "Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline". The Journal of Clinical Endocrinology and Metabolism. 99 (6): 1915–42. doi:10.1210/jc.2014-1498. PMID 24893135.
- "Family Cancer Syndromes". www.cancer.org. Retrieved 2016-03-25.
- Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, et al. (December 2017). "Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women". JAMA Oncology. 3 (12): 1647–1653. doi:10.1001/jamaoncol.2017.1996. PMC 5824270. PMID 28727877.
- Raymond VM, Gray SW, Roychowdhury S, Joffe S, Chinnaiyan AM, Parsons DW, et al. (April 2016). "Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories". Journal of the National Cancer Institute. 108 (4): djv351. doi:10.1093/jnci/djv351. PMC 4849259. PMID 26590952.
- Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G (August 2007). "Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors". Journal of Genetic Counseling. 16 (4): 387–407. doi:10.1007/s10897-007-9101-8. PMC 6338721. PMID 17636453.
- Pong AW, Pal DK, Chung WK (May 2011). "Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist". Pediatric Neurology. 44 (5): 317–27. doi:10.1016/j.pediatrneurol.2011.01.017. PMID 21481738.
- Helbig I, Scheffer IE, Mulley JC, Berkovic SF (March 2008). "Navigating the channels and beyond: unravelling the genetics of the epilepsies". The Lancet. Neurology. 7 (3): 231–45. doi:10.1016/S1474-4422(08)70039-5. PMID 18275925.
- Scheffer IE (April 2014). "Epilepsy genetics revolutionizes clinical practice". Neuropediatrics. 45 (2): 70–4. doi:10.1055/s-0034-1371508. PMID 24615646.
- Renton AE, Chiò A, Traynor BJ (January 2014). "State of play in amyotrophic lateral sclerosis genetics". Nature Neuroscience. 17 (1): 17–23. doi:10.1038/nn.3584. PMC 4544832. PMID 24369373.
- Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, et al. (June 2016). "Presymptomatic ALS genetic counseling and testing: Experience and recommendations". Neurology. 86 (24): 2295–302. doi:10.1212/WNL.0000000000002773. PMC 4909562. PMID 27194384.
- Miles JH (April 2011). "Autism spectrum disorders--a genetics review". Genetics in Medicine. 13 (4): 278–94. doi:10.1097/GIM.0b013e3181ff67ba. PMID 21358411.
- Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. (May 2010). "Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies". American Journal of Human Genetics. 86 (5): 749–64. doi:10.1016/j.ajhg.2010.04.006. PMC 2869000. PMID 20466091.
- Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, et al. (September 1999). "Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum". American Journal of Human Genetics. 65 (3): 664–70. doi:10.1086/302553. PMC 1377972. PMID 10441572.
- Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, et al. (June 2011). "Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors". Genetics in Medicine. 13 (6): 597–605. doi:10.1097/GIM.0b013e31821d69b8. PMC 3326653. PMID 21577118.
- Crozier S, Robertson N, Dale M (February 2015). "The psychological impact of predictive genetic testing for Huntington's disease: a systematic review of the literature". Journal of Genetic Counseling. 24 (1): 29–39. doi:10.1007/s10897-014-9755-y. PMID 25236481.
- Went L (January 1990). "Ethical issues policy statement on Huntington's disease molecular genetics predictive test. International Huntington Association. World Federation of Neurology". Journal of Medical Genetics. 27 (1): 34–8. doi:10.1136/jmg.27.1.34. PMC 1016877. PMID 2137881.
- Singleton AB, Farrer MJ, Bonifati V (January 2013). "The genetics of Parkinson's disease: progress and therapeutic implications". Movement Disorders. 28 (1): 14–23. doi:10.1002/mds.25249. PMC 3578399. PMID 23389780.
- Trinh J, Farrer M (August 2013). "Advances in the genetics of Parkinson disease". Nature Reviews. Neurology. 9 (8): 445–54. doi:10.1038/nrneurol.2013.132. PMID 23857047.
- Pletcher BA, Toriello HV, Noblin SJ, Seaver LH, Driscoll DA, Bennett RL, et al. (June 2007). "Indications for genetic referral: a guide for healthcare providers". Genetics in Medicine. 9 (6): 385–9. doi:10.1097/GIM.0b013e318064e70c. PMC 3110962. PMID 17575505.
- Macdonald F (1 November 2008). "Practice of prenatal diagnosis in the UK". Clinical Risk. 14 (6): 218–221. doi:10.1258/cr.2008.080062.
- American College of Obstetricians Gynecologists' Committee on Practice Bulletins—Obstetrics; Society for Maternal–Fetal Medicine (May 2016). "Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders". Obstetrics and Gynecology. 127 (5): e108–22. doi:10.1097/AOG.0000000000001405. PMID 26938573.
- Benn P, Borrell A, Chiu RW, Cuckle H, Dugoff L, Faas B, et al. (August 2015). "Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis". Prenatal Diagnosis. 35 (8): 725–34. doi:10.1002/pd.4608. PMID 25970088.
- Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS (October 2016). "Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics". Genetics in Medicine. 18 (10): 1056–65. doi:10.1038/gim.2016.97. PMID 27467454.
- Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, Campion MW, Devary K, Devers P, Singletary CN (February 2013). "NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy". Journal of Genetic Counseling. 22 (1): 4–15. doi:10.1007/s10897-012-9545-3. PMID 23179172.
- Committee On Practice Bulletins—Obstetrics, Committee on Genetics (May 2016). "Practice Bulletin No. 163: Screening for Fetal Aneuploidy". Obstetrics and Gynecology. 127 (5): e123–37. doi:10.1097/AOG.0000000000001406. PMID 26938574.
- Dugoff L, Norton ME, Kuller JA (October 2016). "The use of chromosomal microarray for prenatal diagnosis". American Journal of Obstetrics and Gynecology. 215 (4): B2–9. doi:10.1016/j.ajog.2016.07.016. PMID 27427470.
- International Society for Prenatal Diagnosis; Society for Maternal Fetal Medicine (January 2018). "Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis". Prenatal Diagnosis. 38 (1): 6–9. doi:10.1002/pd.5195. PMID 29315690.
- Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV (June 2013). "ACMG position statement on prenatal/preconception expanded carrier screening". Genetics in Medicine. 15 (6): 482–3. doi:10.1038/gim.2013.47. PMID 23619275.
- "Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy". Obstetrics and Gynecology. 126 (3): e31–7. September 2015. doi:10.1097/AOG.0000000000001051. PMID 26287791.
- Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, et al. (April 2015). "Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations". European Journal of Human Genetics. doi:10.1038/ejhg.2015.56. PMID 25828867.
- "Counseling About Genetic Testing and Communication of Genetic Test Results – ACOG". www.acog.org. Retrieved 2018-09-25.
- "Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine". Obstetrics and Gynecology. 129 (3): 595–596. March 2017. doi:10.1097/AOG.0000000000001947. PMID 28225420.
- "Carrier Screening for Genetic Conditions - ACOG". www.acog.org. Retrieved 2018-09-25.
- Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, et al. (April 2002). "Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors". Journal of Genetic Counseling. 11 (2): 97–119. doi:10.1023/A:1014593404915. PMID 26141656.
- Rothwell E, Johnson E, Mathiesen A, Golden K, Metcalf A, Rose NC, et al. (August 2017). "Experiences among Women with Positive Prenatal Expanded Carrier Screening Results". Journal of Genetic Counseling. 26 (4): 690–696. doi:10.1007/s10897-016-0037-8. PMC 5432405. PMID 27796679.
- "Perinatal Risks Associated With Assisted Reproductive Technology – ACOG". www.acog.org. Retrieved 2018-09-25.
- Stefansdottir V, Skirton H, Jonasson K, Hardardottir H, Jonsson JJ (July 2010). "Effects of knowledge, education, and experience on acceptance of first trimester screening for chromosomal anomalies". Acta Obstetricia et Gynecologica Scandinavica. 89 (7): 931–8. doi:10.3109/00016341003686073. PMID 20235896.
- Peay H, Austin J (2011). How to Talk with Families About Genetics and Psychiatric Illness. New York, London: Norton. ISBN 978-0-393-70549-2.
- Giegling I, Hosak L, Mössner R, Serretti A, Bellivier F, Claes S, et al. (October 2017). "Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics" (PDF). The World Journal of Biological Psychiatry. 18 (7): 492–505. doi:10.1080/15622975.2016.1268715. PMID 28112043.
- Inglis A, Morris E, Austin J (January 2017). "Prenatal genetic counselling for psychiatric disorders". Prenatal Diagnosis. 37 (1): 6–13. doi:10.1002/pd.4878. PMC 5247258. PMID 27466037.
- Ryan J, Virani A, Austin JC (June 2015). "Ethical issues associated with genetic counseling in the context of adolescent psychiatry". Applied & Translational Genomics. 5: 23–9. doi:10.1016/j.atg.2015.06.001. PMC 4745399. PMID 26937355.
- Demkow U, Wolańczyk T (June 2017). "Genetic tests in major psychiatric disorders-integrating molecular medicine with clinical psychiatry-why is it so difficult?". Translational Psychiatry. 7 (6): e1151. doi:10.1038/tp.2017.106. PMC 5537634. PMID 28608853.
- Moldovan R, Pintea S, Austin J (December 2017). "The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis". Journal of Genetic Counseling. 26 (6): 1341–1347. doi:10.1007/s10897-017-0113-8. hdl:2429/68096. PMID 28616830.
- Tsuang MT (December 1978). "Genetic counseling for psychiatric patients and their families". The American Journal of Psychiatry. 135 (12): 1465–75. doi:10.1176/ajp.135.12.1465. PMID 717559.
- Biesecker BB (2016-08-16), "Genetic Counselling: Psychological Issues", ELS, John Wiley & Sons, Ltd, pp. 1–5, doi:10.1002/9780470015902.a0005616.pub3, ISBN 978-0-470-01590-2
- Biesecker B, Austin J, Caleshu C (April 2017). "Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?". Journal of Genetic Counseling. 26 (2): 334–336. doi:10.1007/s10897-016-0025-z. PMC 5383505. PMID 27804046.
- Dolan SM (August 2009). "Prenatal genetic testing". Pediatric Annals. 38 (8): 426–30. doi:10.3928/00904481-20090723-05. PMID 19711880.
- Gallagher TM, Bucciarelli M, Kavalukas SL, Baker MJ, Saunders BD (September 2017). "Attitudes toward genetic counseling and testing in patients with inherited endocrinopathies". Endocrine Practice. 23 (9): 1039–1044. doi:10.4158/EP171875.OR. PMID 28613942.
- Haga SB, Barry WT, Mills R, Ginsburg GS, Svetkey L, Sullivan J, et al. (April 2013). "Public knowledge of and attitudes toward genetics and genetic testing". Genetic Testing and Molecular Biomarkers. 17 (4): 327–35. doi:10.1089/gtmb.2012.0350. PMC 3609633. PMID 23406207.
- Scuffham TM, McInerny-Leo A, Ng SK, Mellick G (April 2014). "Knowledge and attitudes towards genetic testing in those affected with Parkinson's disease". Journal of Community Genetics. 5 (2): 167–77. doi:10.1007/s12687-013-0168-7. PMC 3955457. PMID 24018619.
- Singer E, Couper MP, Raghunathan TE, Van Hoewyk J, Antonucci TC (Fall 2008). "Trends in U.S. Attitudes Toward Genetic Testing, 1990–2004". Public Opinion Quarterly. 72 (3): 446–458. doi:10.1093/poq/nfn033. PMC 3045776. PMID 22476359.
- "NSGC Blog". National Society of Genetic Counselors. Retrieved 15 August 2019.
- Abacan, MaryAnn; Alsubaie, Lamia; Barlow-Stewart, Kristine; Caanen, Beppy; Cordier, Christophe; Courtney, Eliza; Davoine, Emeline; Edwards, Janice; Elackatt, Niby J. (2018-10-05). "The Global State of the Genetic Counseling Profession". European Journal of Human Genetics. 27 (2): 183–197. doi:10.1038/s41431-018-0252-x. ISSN 1018-4813. PMC 6336871. PMID 30291341.
- Zhao X, Wang P, Tao X, Zhong N (July 2013). "Genetic services and testing in China". Journal of Community Genetics. 4 (3): 379–90. doi:10.1007/s12687-013-0144-2. PMC 3739851. PMID 23595912.
- "中国遗传学会遗传咨询分会". www.cbgc.org.cn. Retrieved 23 March 2018.
- Li J, Xu T, Yashar BM (September 2015). "Genetics educational needs in China: physicians' experience and knowledge of genetic testing". Genetics in Medicine. 17 (9): 757–60. doi:10.1038/gim.2014.182. PMID 25503494.
- Kromberg JG, Wessels TM, Krause A (December 2013). "Roles of genetic counselors in South Africa". Journal of Genetic Counseling. 22 (6): 753–61. doi:10.1007/s10897-013-9606-2. PMID 23723047.
- Johannesburg, The University of the Witwatersrand. "Genetic Counselling – Wits University". www.wits.ac.za. Retrieved 2018-08-15.
- "Genetic Counselling Courses | Division of Human Genetics". www.humangenetics.uct.ac.za. Retrieved 2018-08-15.
- "Home Page – HPCSA". www.hpcsa.co.za. Retrieved 2018-08-15.
- "Genetic Counselling South Africa – SASHG". sashg.org. Retrieved 2018-08-15.
- "SASHG – Southern African Society for Human Genetics (SASHG)". sashg.org. Retrieved 2018-08-15.
- "Genetic testing and counselling". nhs.uk. Retrieved 2018-08-16.
- "Association of Genetic Nurses and Counsellors". www.agnc.org.uk. Retrieved 2018-08-16.
- "British Society for Genetic Medicine". www.bsgm.org.uk. Retrieved 2018-08-16.
- "European Society of Human Genetics: Training in Genetics". www.eshg.org. Retrieved 2018-08-16.
- "Home – Genetic Counsellor Registration Board". Genetic Counsellor Registration Board. Retrieved 2018-08-16.
- Ormond KE, Laurino MY, Barlow-Stewart K, Wessels TM, Macaulay S, Austin J, Middleton A (March 2018). "Genetic counseling globally: Where are we now?". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178 (1): 98–107. doi:10.1002/ajmg.c.31607. PMC 5947883. PMID 29575600.
- Alexandra Minna Stern, Telling Genes: The Story of Genetic Counseling in America. Baltimore, MD: Johns Hopkins University Press, 2012