GC 201: Principles of Genetic Counseling AY 2023- 2024
Section outline
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Hello everyone! I would like to welcome you to the GC 201 course. This is a 3-unit course designed to explore fundamental theories and principles of effective patient/client interviewing in genetic counseling practice. The genetic counseling student is expected to gain an appreciation on the importance of the field of genetic counseling in the provision of clinical medical genetics. Foundation knowledge and skills on the responsibilities of a genetic counselor as part of the medical genetics team are applied.
This VLE site will be our platform for remote learning. All announcement and discussion will be through this site and I would encourage you to participate in all the activities here. Readings will also be uploaded in this site so you have a handy reference.
I hope we have a good semester and let me know if you have any concerns through my email: lgdecastrohamoy@up.edu.ph.
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In this topic, we will examine the evolution of the definition of genetic counseling since it was first coined by Sheldon Reed in the mid-1900s. We will explore the history of the profession and examine the factors that enabled and supported the development of the profession through the years. By examining these, we shall try, in the discussion forum, to contextualize the development of genetic counseling as a profession in the Philippines.
Please read through the required readings in this topic and answer the discussion form that follows.
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These papers describe the history of genetic counseling. They provide the necessary historical perspective on how genetic counseling developed and evolved through the years from the time it was first formally offered as a graduate program in Sarah Lawrence College until the formation of a new professional group. Through these papers, we can examine the significant contributions of milestones in specific time period in the development of the profession.
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These journal articles describe the development of genetic counseling in the United States primarily and in other areas of the world. There is also a paper by Laurino and Padilla about the establishment of genetic counseling training program in the Philippines. Another paper by Padilla and Cutiongco-dela Paz discusses the genetics and genomics services in the Philippines. Please read through these papers to have a better understanding of the context by which genetic counseling as a profession developed. Try to reflect on how the developments in genetics and genomics services in the Philippines served as impetus for pushing genetic counseling in the country.
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Traditionally, genetic counseling deals with single-gene conditions like inborn errors of metabolism and cancer predisposition syndromes. However, the advent of advanced testing methodologies such as the use of next generation sequencing, and the increasing use of whole exome and whole genome sequencing have impacted the way genetic counseling happens. In this paper by Ormond (2013), she discusses the implications of 'genomics' to the practice of genetic counseling and she puts forward the change from genetic to genomic counseling.
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This 2018 manuscript by Ormond Kelly et al presents the developments in genetic counseling globally. While the profession has an established presence in US, Canada, UK, and Australia, the profession is slowly developing in other parts of the world such as in the Philippines. This paper would give you an overview on how genetic counseling is integrated in each of these countries health systems and what challenges the profession is encountering in each of these settings.
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In this topic, we will examine the Reciprocal Engagement Model (REM) of Genetic Counseling, the contemporary framework from which the practice of genetic counseling is anchored on. We will study the different tenets of genetic counseling based on the REM and discuss how these are operationalized in actual practice. We will also examine the different genetic counseling "schools of thought" particularly the teaching and the counseling approach in genetic counseling.
Please read the following papers and answer the discussion forum that follows.
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In much of the history of genetic counseling, we have relied on other theories and models of other fields to guide the practice of genetic counseling. For example, much of the contemporary practice of genetic counseling has been influenced by Carl Roger's client-centered counseling. The Reciprocal Engagement Model is a proposed model to capture the essence and tenets of practice of genetic counselors and clarifies the goals, strategies, and behaviors.
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While the REM provided the tenets, strategies, and behavior, it did not specify the outcomes of genetic counseling. In this paper, these outcomes are elucidated based on a study of practicing genetic counselors. As you may notice, there are no hard and fast rule yet on the outcomes and these are all evolving. However, these are the outcomes that are practice-based and more research is needed to study these outcomes.
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When we study outcomes of genetic counseling, it is always important to consider the perspective of our clients and their families. After all, the genetic counseling session and the process itself is centered around our clients. Their perspectives are important because our goals and strategies can be anchored from how they perceive the process. This research by Skirton (2001) elucidates the perspectives of client's in genetic counseling enabling us to know what outcomes are most salient for them.
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Listening to patients is an important fundamental skills of genetic counselors. There are two ways that we can manifest listening to patients - (1) through our attending skills; and (2) through the use of primary empathy skills. In this topic we will elaborate on the attending skills and primary empathy skills and discuss strategies on how we can apply these techniques effectively on our practice.
Another important skill of a genetic counselor is asking effective questions - knowing when, what, and how to ask questions. Two types of questions are important - (1) closed questions; and (2) open questions. Both are important in genetic counseling and depending on the reason we use them, we ensure that the goals of genetic counseling are achieved. In this topic, we will discuss these two types of questions and the strategies on asking questions effectively.
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In the role play video that you watched, comment on the:
1. The attending skills that the genetic counselor employed. Identify the skills that you saw and explain how these contribute to the overall counseling session.
2. The primary empathy skills that the genetic counselor employed. Identify the empathy responses of the counselor and explain how these contributed in further elucidating the thoughts and emotions of the client.
3. The effectiveness of the questions the genetic counselor asked.
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In this topic, we will learn the principles of family history assessment using standardized pedigree symbols. As the family history is an important tool to assess for genetic risks, competence in family history assessment is imperative among genetic counselors.
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This paper by Bennett el al (2008) provides update on the standardized human pedigree nomenclature initially published in 1995. The updates were mostly stylistic in nature and still follow the general nomenclature put forth in 1995. They also tackle challenges in integrating family history assessment using electronic medical record, and issues on privacy and confidentiality.
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This seminal work describes the process by which the standard human pedigree nomenclature as we know today was developed. This provides a good historical background on the development of the nomenclature.
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Family history assessment does not only enable health professionals, including genetic counselors, to arrive at a possible diagnosis and promote risk assessment, but it also builds rapport with our clients. In taking the family history, we balance the goal of getting an accurate history with being empathic and responsive to the immediate needs of our clients. View the role play video on family history taking and note the way the genetic counselor approached the client and the whole assessment.
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In this commentary by Tuite et al (2020), they propose new symbols that can be used to represent members of the Transgender and Gender Non-Binary (TGNB) community.
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In this article by Sheehan et al (2020), they investigated on the extent by which genetic counselors are able to represent members of the Transgender and Gender Non-Binary (TGNB) in their family history assessment.
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Here is the Powerpoint presentation on family medical history
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In this topic, we will examine the principles and basis for genetic risk estimation from looking at empiric risks and recurrence risks based on Mendelian inheritance. We will also look at modified risks and some applications. Specifically, we will study the use of Bayesian analysis that can inform us of modified risks given certain conditions in our clients and their families.
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This paper by Ogino and Wilson (2004) provides a comprehensive overview of risk assessment in genetic counseling and the use of Bayesian analysis in situations of modified risks. Please read through this article and watch the recorded lecture that follows.
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Here is the pre-recorded video lecture of Dr. Laurino on risk calculation and recurrence risk estimation. Please view this video lecture and answer the activity that follows.
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In this topic, we will learn how to structure a genetic counseling session specifically how to initiate and set contract with our clients, and how to end and refer as needed. Strategies and tips on how to go about the genetic counseling session will be highlighted in this topic. Please go through all the learning resources and answer the discussion forum and activities that follow.
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Please read this chapter from the book of Veach et al on Facilitating Genetic Counseling.
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Here is the actual case preparation and intake checklist that we use for our clinical rotation at the PGH Genetics Clinic. Please note that this specifically designed for pediatric genetics consultation as the Genetics Clinic primarily caters to pediatric patients. For rotation in other clinics (e.g., cancer), we have the same steps in case preparation, but the intake questions are targeted to the specific indications of clients that we see in clinic, i.e., cancer family history will be highlighted in cancer clinics. Familiarize yourself with this checklist as you will be using this once you rotate and conduct actual genetic counseling sessions.
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After the session, genetic counselors usually send letters to their clients summarizing in laypersons terms what has transpired during the session. This is vital as an educational material to our clients which can help them recall technical information that has been discussed. The letter may also help facilitate communication of information with other members of the family and with other health care personnel attending to the client's needs. Please go through this article by Baker et al (2002) on how to write patient letters.
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Here is an example of an actual patient letter that was sent to recap what has transpired in the genetic counseling session. To maintain privacy, identifying information are redacted.
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Watch this genetic counseling role play scenario and answer the following questions:
1. How did the genetic counselor initiate and set contract for this genetic counseling session? What was her approach?
2. What do you think is the goal of this session? How does the genetic counseling goal/s relate to the approach of the genetic counselor?
3. How did the genetic counselor end the session? What was her approach?
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In this topic, we will examine some advanced techniques in genetic counseling specifically on facilitating decision-making, risk communication, and advanced empathy. As genetic counselors, we are often engaged in counseling session where our clients need to make a decision whether this is pursuing a genetic test, or communicating genetic information in his/her family. In situations like this, it is imperative for the genetic counselor to guide the clients in the decision-making process. In other situations, we are confronted with having to communicate risks and probabilities to our clients. Remember that more than the risk figure, the emotions attached to the risks are very important that genetic counselors understand and respond to. Lastly, advanced empathy is used to process in-depth client's thoughts, emotions, and feelings. Not as often used as primary empathy skills, but advanced empathy is effective especially when used strategically.
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Read this chapter on facilitating decision-making from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by LeRoy, Veach, Callanan)
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Read this section on risk communication from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by LeRoy, Veach, and Callanan)
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Read this chapter on advanced empathy and confrontation from the book Facilitating the Genetic Counseling Process (by Veach, LeRoy, and Callanan)
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We are working in a multicultural setting and as such it is imperative for genetic counselors to be culturally sensitive and competent. These papers provide an overview of the implications of cultural beliefs of disease causation in the Philippine in our practice as genetic counselors. The use of Kleinman Explanatory Model of Illness is also suggested as an approach to be culturally sensitive in our practice setting.
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In this topic, we shall examine the various patient's responses to genetic conditions and genetic testing. It is important for genetic counselors to identify specific responses of our patients so that we can adequately address this. There is no hard and fast rule in attending to patient's responses and genetic counselors can be guided by basic attending skills and primary empathy skills; as a the genuineness exuded by the counselor. Aside from patient's responses, we also deal with the counselor's own responses to the counseling situation. It is also important that counselors recognize that they may have biases and preconceived notions about the situation which may affect the effectiveness of the counseling session. In this topic, we shall explore more about counselor's countertransference.
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These papers elucidate on the psychosocial responses to genetic conditions and genetic testing. We need to understanding the whole gamut of human emotional responses that we may encounter in our practice setting so we are able to tailor our techniques and strategies accordingly.
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Read this chapter on understanding grief from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)
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Read this chapter on patient anger from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)
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Read this chapter on patient resistance and adherence (and non-adherence) from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)
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Read this chapter on countertransference from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)
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Download the First Long Examination here File
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Due: Thursday, 26 October 2023, 8:00 PM
Make sure to save your answer sheet in PDF
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In this topic, we will examine the genetic counseling approaches in dysmorphology and genetic syndromes using chromosomal abnormalities as examples. We will also look into the different diagnostic approaches including the utility of genetic and molecular testing.
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This is a good textbook reference on genetic counseling approaches in various genetic syndromes.
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This paper contains the practice guidelines in the prenatal and postnatal genetic counseling approaches in Down Syndrome. The focus of this paper is on communicating results to parents and families.
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Down Syndrome has three types based on cytogenetic analysis: full trisomy 21, mosaic, and translocation. While Down Syndrome can be diagnosed clinically, cytogenetic analysis is recommended to ascertain the type of Down Syndrome because this has implications in the recurrence risk. In this paper by Padilla et al, they expounded on the cytogenetics of translocation Down Syndrome and how this can affect the approach in genetic counseling.
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This is case report that documents genetic counseling issues and approaches in providing preconception counseling in a Filipino couple with a previous history of a child with Trisomy 18.
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This review paper expounds on the use of molecular testing in the pediatric population, the different testing modalities, risks and benefits.
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This is a good resource on genetic testing developed by the National Society of Genetic Counselors. It discusses the technology of genetic testing, its complexity, and the genetic counseling process in providing pre-test and post-test counseling.
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This resource from the Human Genetics Society of Australia elaborates on the genetic counseling issues in predictive and presymptomatic genetic testing.
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In this topic, we will discuss the principles of cancer genetic risk assessment with the clinical practice guidelines from the National Society of Genetic Counselors and the National Comprehensive Cancer Network as references. We will also tackle the issues surrounding cancer genetic testing, informed consent, and provision of psychosocial support specific to cancer genetics. For this topic, we will specifically tackle hereditary breast and ovarian cancer and Lynch Syndrome as examples.
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This recommendations paper by the NSGC discusses essential information about cancer assessment, genetic testing, informed consent, and psychosocial support.
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This recent document elaborates on the current guidelines on hereditary colorectal cancer assessment. This features algorithms in risk assessment, genetic testing, and surveillance recommendations.
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This recent document elaborates on the genetic assessment of hereditary breast, ovarian, and pancreatic cancers. This also contains algorithms in assessment, genetic testing, and surveillance recommendations.
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Majority of cases of hereditary breast and ovarian cancer are due to mutations in either the BRCA1 or the BRCA2 gene. This review papers elucidates on the role of mutations in the BRCA1 and BRCA2 genes in hereditary breast and ovarian cancer.
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There are a number of breast cancer risk assessment models that can be used with their pros and cons. This paper elaborates on the advantages and disadvantages of each of the breast cancer risk assessment models available.
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Myriad has for the longest time 'owns' the patent for the BRCA1 and BRCA2 genes. Through their research, they have developed the prevalence risk tables which tells the probability of a mutation in either the BRCA1 or BRCA2 gene given features in the family health history.
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This prediction model developed by Dana-Farber Cancer Institute utilizes information from the family history to predict probability of mutations in any of the mismatch repair genes which is causative of Lynch Syndrome.
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Watch this prerecorded video on genetic counseling approaches in hereditary colorectal cancer.
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You can download here the powerpoint presentation of Dr. Tumulak on cancer genetic counseling.
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In this topic, we will learn the different approaches in prenatal screening and diagnosis. We will put particular emphasis on the genetic counseling approaches in our clients undergoing prenatal screening.
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Non-invasive prenatal testing (NIPT) through the use of cell-free fetal DNA has become popular in the past few years. Genetic counselors have important role in ensuring that couples undergoing NIPT are adequately informed about the benefits, limitations, use, and implications of NIPT test results. Read this position statement by the National Society of Genetic Counselors on NIPT.
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This peer-reviewed opinion article discusses the vital information that should be included in the genetic counseling session with couples who are thinking of undergoing NIPT.
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This paper discusses the nuances in providing pre-test and post-test genetic counseling for couples who are undergoing prenatal screening and/or diagnostic testing.
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Genetic counseling in the Philippines traces its roots to the demand posed by the newborn screening program. In this topic, we will explore the genetic counseling approaches in disorders screened under the Philippine National Newborn Screening Program.
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You may view here the Powerpoint presentation of Mr. Edbert Jasper Jover on genetic counseling in newborn screening. This presentation is for students' use only and should not be shared outside of this class.
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In this topic, we will learn about the natural history, molecular etiology, testing approaches, and genetic counseling strategies in X-linked Dystonia Parkinsonism.
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This is the Genereviews entry on XDP. You can learn the natural history, molecular etiology, testing approach, and genetic counseling approaches in individuals and families affected with X-linked Dystonia Parkinsonism.
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Due: Thursday, 14 December 2023, 8:00 PM
Hello everyone, please download the 2nd long examination here. The exam is due at 8PM today, December 14, 2023
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The goals of this assignment are two-fold: (1) it will allow the students to integrate basic skills and approaches learned in this course; and (2) to critically reflect on their own counseling skills and derive ways on how to improve. Please see the detailed instructions in this link: https://docs.google.com/document/d/1emlvchH09F5fkNKs2Nr4-RQBuf2xf958NoDf7WAqWpw/edit?usp=sharing
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Due: Thursday, 21 December 2023, 11:59 PM
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