Genetic Counseling

ISPD understands the unique perspective that Genetic Counselors (GCs) contribute, and considers them an integral part of the society and its purpose. The Genetic Counseling (GC) SIG was launched at the ISPD annual conference in Washington, DC in July 2015.

The SIGs mission is to encourage the exchange of information and experience among professionals providing genetic counseling as well as increasing international awareness of the profession.

SIG Topics of Discussion/Interest

  • Screening and diagnostic techniques
  • Chromosome analysis and microarray
  • Pan-Ethnic carrier screening
  • International collaboration among GCs
  • Genetic counselor training
  • International utilization of GCs
  • Development of an international database of prenatal GCs

International Context-sensitive Practice in Prenatal Counseling and Clinical Practice 

 
Judith Jackson, on behalf of the Genetic Counselling and Ethics of Reproductive Testing and Fetal Therapy SIGs




The 2018 ISPD conference in Antwerp, Belgium hosted 609 people from all over the world representing 50 countries. The co-chairs of the Ethics and Genetic Counseling Special Interest Groups designed a highly successful pre-conference course that highlighted international variation in the utilization of prenatal screening and diagnostic technologies. Our speakers came from many disciplines, and each spoke about the clinical and regulatory landscape of prenatal services in their regions, including South America, China, the United Kingdom, Israel, and the United States. Highlights of each invited speaker are provided here, with further suggested reading.


Latin America – Socioeconomic and Legal Restrictions on Prenatal Testing

Prof Lucas Otaño, MD PhD, from Hospital Italiano in Buenos Aires, Argentina, discussed utilization of prenatal services in Latin America. Socioeconomic status impacts access to prenatal services in Argentina and the rest of Latin America as patients usually have to pay out-of-pocket for testing. In Argentina, this means than less than 1% of patients have noninvasive prenatal testing (NIPT) and there are no guidelines from scientific societies or public health organizations regarding the utilization of NIPT. Furthermore, pretest counselling before NIPT is very limited and Brazil is the only country in Latin America that has genetic counselors.

The other factor that impacts the availability of prenatal services in Latin America is the restricted availability of termination. In South America, Uruguay is the only country in which abortion is available without restrictions on indications. Although abortion is illegal in Argentina, approximately 400,000 women in Argentina have terminations annually. Death from termination is the most common cause of maternal mortality in Argentina. Despite this, Argentina’s senate recently rejected a bill to legalize abortion following a divisive public debate.

Further reading: Lucas Otaño & Laura Igarzábal (2015) Noninvasive Prenatal Testing for Fetal Aneuploidy in Argentina, AJOB Empirical Bioethics, 6:1, 111-114, DOI: 10.1080/23294515.2014.993439


China – Balancing Two-child Policy Reform with the Consequences of Advanced Maternal Age

Dong Dong PhD from the Hong Kong Baptist University, Hong Kong SAR, reviewed the tension between the quantity and the quality of human reproduction along a historical timeline in contemporary China. When China began its one-child policy, having one perfectly healthy baby meant granting the newborn certain economic, social and cultural prestige that could lead to a good start in the future global competition. “Winning at the starting line” became the most popular and powerful catchphrase for Chinese parents who autonomously internalized and acted upon the State’s will of having a “high-quality” population. However, when the two-child policy was initiated in 2016, it created a tension between encouraging more births overall, and encouraging more women over age 35 to have a second child, which in turn could cause an increase in the rate of birth defects. The National Health and Family Planning Commission repeatedly emphasized the prevention of birth defects as a “focal point” for the sake of “comprehensive two-child policy reform.” But, unlike a commodity, the “quality” of a baby can hardly be assured even through the strictest “quality inspection system.” Accordingly, the State has invented, adopted and utilized all types of political, economic, and social strategies to solve this dilemma between birth rate and genetic health. Dr. Dong also traced the historical change of prenatal genetic testing practices in China since the 1990s and revealed the significance that selective reproduction technologies could have in social, cultural and regulatory terms, and the role that they could play in shaping governance practice.

Suggested reading:  Jianfeng Zhu & Dong Dong. Chapter 7. From quality control to informed choice: Understanding “good birth” and prenatal genetic testing in contemporary urban China.

Gibbon, S. (Ed.), Prainsack, B. (Ed.), Hilgartner, S. (Ed.), Lamoreaux, J. (Ed.). (2018). Routledge Handbook of Genomics, Health and Society. London: Routledge. https://www.taylorfrancis.com/books/e/9781315451688

United Kingdom – National Implementation of Publicly-funded NIPT and Controversy over Informed Choice

Ms Jane Fisher is Director of the UK Charity Antenatal Results and Choices (ARC). ARC provides independent non-directive information and support to women and couples through prenatal screening and its consequences. ARC works closely and collaboratively with professionals in the field and runs a well-established training program. Jane noted that the UK (with the exception of Northern Ireland) has a standardized prenatal screening program overseen by the UK National Screening Committee. All women accessing National Health Service (NHS) prenatal care (which is almost all pregnant women) are offered screening for trisomy 21, 18 and 13, for hemoglobinopathies and structural fetal anomalies. Screening for Down syndrome is hotly contested by advocates for people living with the condition and anti-choice campaigners, particularly in the era of cell-free DNA techniques. NIPT has been available and widely used in the private sector since 2012. The NHS are planning to implement the technology into the current trisomy screening program by the end of 2018. In preparation for this, a national training program for staff has been rolled out that included input from ARC, disability specific organizations and parents of affected children. The objective is to facilitate personal informed choice throughout screening and diagnosis. Abortion law in England, Scotland and Wales allows for terminations for serious fetal anomaly without gestational time limit. However, in practice very few terminations occur after the 24 week cut off for most abortions.   

For further information about Antenatal Results and Choices go to https://www.arc-uk.org/home


United States – heterogeneity in prenatal care and reproductive choices

Marsha Michie PhD from Case Western Reserve University in Cleveland, Ohio, United States, spoke about the clinical landscape for prenatal care in the US. She noted that, because the practice of medicine in the US is regulated by individual states, an individual woman’s prenatal care may vary widely. The prenatal care she receives is shaped by where she lives, her income and insurance status, and any local idiosyncrasies of her health care provider. For example, California’s comprehensive prenatal screening program is inexpensive and well-supported by a statewide network of perinatal diagnostic clinics, staffed by genetic counselors and maternal-fetal medicine specialists. This program is fairly unique in the US, and many states have very few genetic counselors or perinatal specialists. In these places, prenatal care providers may rely on newer cell-free DNA screening because it is easy to access—but they also may have limited access to information about these tests beyond company-produced marketing materials. Abortion access also varies between states, and restrictions on abortion have increased markedly in the last several years. In 2017, 19 of the 50 states in the US enacted a total of 63 restrictions on abortion access. With impending changes to the US Supreme Court, access to legal abortion in many states may end altogether.

For more information on Dr Michies’ research, go to the Prenatal Information Research Consortium at https://prenatalinformation.org


Israel – relative importance of reproductive carrier screening in prenatal care

Dr. Adi Reches, ObGyn and Medical Geneticist from the Tel Aviv Sourasky Medical Center spoke about the landscape of prenatal care and utilization in Israel. The Israeli Health Ministry funds prenatal genetic screening for common conditions for all citizens. The uptake is high among the secular population, due among other things to growing awareness of the treating ObGyns. Due to communities that tend to wed within themselves, specific pathogenic variants are also screened for, aimed at the relevant populations. Amongst religious Jews a program called Dor Yesharim screens both partners before matrimony, so that carriers of the same condition do not wed. Preimplantation genetic diagnosis is available and funded for carriers of genetic conditions.

All women are offered screening for trisomy 21 structural fetal anomalies via first and second trimester serum screening and ultrasound system scans. Amniocentesis is also funded for all women over 35, those at high risk for trisomy 21, or those at high risk for an affected fetus, as asserted by a medical geneticist. NIPT is available, currently as an out-of-pocket service, and is usually partly reimbursed by supplemental health care insurance.  The genetic society in Israel is currently trying to introduce NIPT as part of the funded screening tests in pregnancy. Abortion law in Israel allows for termination of pregnancies after approval from a committee up to 23 weeks. After this cutoff, a special committee can still approve of termination, but very serious fetal anomaly needs to be proven.

For more information on government recommendations for genetic testing in Israel, see https://www.health.gov.il/English/Topics/Genetics/checks/Pages/default.aspx

Case-based interactive roundtables

Following these invited presentations, the SIG attendees worked in small groups to discuss case scenarios common to their areas and to consider how approaches might differ. This allowed participants to learn more about international variation in the utilization of prenatal screening and to obtain a greater appreciation of the importance of social context in implementation of new technologies. For further information or to join the ethics or genetic counseling special interest groups, please contact Judith Jackson judyjackson@rcn.com or Marsha Michie Marsha.Michie@ucsf.edu.

 


2017 Global Updates Article

Genetic Counselors Play Integral Role at ISPD's International Conference


The 2017 ISPD conference in San Diego, California hosted 586 people from all over the world. Of those, 133 attendees were genetic counselors (GCs) who represented 14 countries: Australia, Russia, Tunisia, Korea, Albania, China, Kazakhstan, the Netherlands, the United States, Canada, Singapore, Japan, Thailand, and the United Kingdom. Genetic counselors were active participants in all aspects of the conference including moderating and teaching the preconference courses, offering oral presentations, presenting posters, moderating sessions, and participating in lively discussions. Conference organizers and ISPD’s Board of Directors appreciate the integral role that counselors played in this year’s conference and the unique perspective that they contribute to the conference. 

One recurring theme that emerged during the preconference courses, debates, oral presentations, and the genetic counseling SIG meeting was that counseling plays a distinct role in prenatal services. As the complexity of prenatal testing options increases, it becomes more difficult to adequately support patients through the process of informed consent. Many attendees expressed concern that the development of prenatal tests has outpaced our ability to counsel patients appropriately regarding their options (see http://www.nejm.org/doi/full/10.1056/NEJMp1703425?af=R&rss=currentIssue&#t=article). 

Ideally, every patient should have access to a clinician who is well versed in the benefits and limitations of the prenatal screening and diagnostic tests. Counseling should help the patient take into account their own personal values when considering their options. There are efforts focusing on educating clinicians to help patients who are making decisions regarding prenatal testing. In addition, decision making aids such as educational videos that help support patients through the decision making processcan play an integral role in the future in helping us meet the challenge of responsibly educating pregnant patients regarding their options. There is evidence that high-quality decision making aids help patients reduce decisional conflict related to feeling uninformed (see Stacey D, Légaré F, Lewis K, Barry MJ, Bennett CL, Eden KB, Holmes-Rovner M, Llewellyn-Thomas H, Lyddiatt A, Thomson R, Trevena L. Decision aids for people facing health treatment or screening decisions. Cochrane Database of Systematic Reviews 2017, Issue 4. Art. No.: CD001431. DOI: 10.1002/14651858.CD001431.pub5). 

Groups such as the Genetic Support Foundation (GSF) and the Perinatal Quality Foundation (PQF) focus on improving the quality of communication regarding prenatal testing options. The GSF is an organization committed to providing objective, up-to-date information about genetics. They also offer evidence-based decision making aids for people considering prenatal screening and diagnostic tests. They have developed many educational videos to help patients considering screening and diagnostic tests. These videos were developed with collaboration and input from stakeholders, including women of reproductive age, parents of children with genetic conditions, genetic counselors, maternal fetal medicine specialists, obstetricians, pediatricians, and leaders from patient advocacy organizations. These aids are available on their website, geneticsupportfoundation.org. If you are interested in having a video translated into another language contact Katie Stoll at kstoll@geneticsupport.org. The Perinatal Quality Foundation educates obstetricians to help facilitate quality perinatal patient care. Recently, they have developed genetic education modules (GEM) for patients considering prenatal testing to help empower patients to make informed decisions. These modules are available to patients whose obstetricians subscribe to a service through the Perinatal Quality Foundation. More information is available at perinatalquality.org. Although developing decision making aids is currently beyond the scope of ISPD, we are hoping to identify high-quality decision making aids and make them available through our society.

ISPD’s Genetic Counseling SIG is dedicated to improving communication. One of our goals is to have representation from each genetic counseling society throughout the world. The mission is to increase international communication throughout the world regarding genetic resources for prenatal patients and their families.  We have begun to organize an international network of genetic counselors. As co-chairs of the SIG, Charlotta Ingvoldstad, a genetic counselor from Sweden and I will attend the World Congress on Genetic Counselling 4-6 October 2017 at the Wellcome Genome Campus in Hinxton, Cambridge, UK. We are excited to attend this conference as the major focus will be on the communication of genetic information in medicine, and we will discuss strategy to formally organize genetic counselors through ISPD with the purpose of improving international communication regarding prenatal screening and diagnostic testing.

If you have an interest in actively participating in our SIG, or have thoughts about topics you would like presented at future conferences, please contact Judy Jackson at Judith_Jackson@sshosp.org (United States) or Charlotta Ingvoldstad at charlotta.ingvoldstad@karolinska.se (Sweden).
 

SIG Leadership

Co-Chair: Charlotta Ingvoldstad, PhD


Co-Chair: Judith Jackson, MS

Meeting Minutes

11 July 2016 - Berlin, Germany (to be posted)
11 July 2016 - SIGs and Education Committee
15 July 2015 - Washington, DC USA (to be posted)

Annual Reports

2015-2016