Weekly outline

  • Welcome to Genetic Counseling 201!

    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. 

  • Genetic Counseling: Its History and Contemporary Practice

    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. 

    • History of Genetic Counseling Folder

      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. 

    • Defining Genetic Counseling Folder

      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. 

    • Genetic Counseling to Genomic Counseling File

      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. 

    • Genetic Counseling Globally: Where are we now? File

      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. 

  • Genetic Counseling Models of Practice

    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.  

    • Reciprocal Engagement Model of Genetic Counseling File

      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.  

    • Outcomes of Genetic Counseling based on the REM File

      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. 

    • Client's Perspective of Genetic Counseling File

      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. 

  • Listening to Patients and Gathering Information

    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. 

  • Principles of Family History Taking and Risk Assessment

    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. 

    • Watch the pre-recorded lecture video of Mercy Y. Laurino, LCGC, MS, PhD on the Principles of Family History Assessment and read the articles that follow. 

    • Standardized Human Pedigree Nomenclature File

      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. 

    • 1995 Publication on the Standard Human Pedigree Nomenclature File

      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. 

    • Role Play Videos on Family History Assessment Page

      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. 

    • Beyond Circles and Squares File

      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. 

    • Assessing transgender and gender non-conforming pedigree nomenclature in genetic counselors' practice File

      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. 

    • Family Medical History Powerpoint File

      Here is the Powerpoint presentation on family medical history

  • Risk Calculation in Genetic Counseling

    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. 

  • The Genetic Counseling Session

    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. 

    • Structuring the Genetic Counseling Session File

      Please read this chapter from the book of Veach et al on Facilitating Genetic Counseling. 

    • Case Preparation and Intake Checklist File

      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. 

    • Guidelines in Making Patient Letters File

      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. 

    • Sample Patient Letter File

      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. 

    • Structuring a Genetic Counseling Session Forum

      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? 

    • Role Play Exercises (Initiating and Contracting)

      Engage in a 10-15 minute role play scenario with your classmate. During the role play, focus on initiating, contracting, and setting session goals. Audio record the role play. You may Zoom for this activity. Next, transcribe the session verbatim and critique your own work. Use the following template in transcribing: 

      Counselor Patient Self-critique Instructor Feedback
      Key phrases of dialogue Key phrases of dialogue Comment on your response Instructor will provide feedback on your response

      Access the scenarios below. You have been pre-assigned to your scenarios. 

      Role Play Scenario 1 (Genetic Counselor is Bernadette; Angelu is the client)

      Role Play Scenario 2 (Genetic Counselor is John, Bernadette is the client)

      Role Play Scenario 3 (Genetic Counselor is Angelu, John is the client)

      Access the genetic counselor scenario here

      Access the client scenario here

    • Facilitating Decision-Making, Risk Communication, Advanced Empathy, and Cultural Competence

      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. 

      • Facilitating Decision-Making File

        Read this chapter on facilitating decision-making from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by LeRoy, Veach, Callanan)

      • Risk Communication File

        Read this section on risk communication from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by LeRoy, Veach, and Callanan)

      • Advanced Empathy and Confrontation File

        Read this chapter on advanced empathy and confrontation from the book Facilitating the Genetic Counseling Process (by Veach, LeRoy, and Callanan)

      • Being culturally sensitive in a genetic counseling context Folder

        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. 

    • Patients' Response and Genetic Counselors' Self-Reference

      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. 

      • Psychosocial Response to Genetic Conditions and Genetic Testing Folder

        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. 

      • Grief File

        Read this chapter on understanding grief from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)

      • Patient Anger File

        Read this chapter on patient anger from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)

      • Resistance and Adherence (and Non-adherence) File

        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)

      • Genetic Counselors' Countertransference File

        Read this chapter on countertransference from the book Genetic Counseling Practice: Advanced Concepts and Skills (edited by Veach, LeRoy, and Callanan)

    • 1st Long Examination

    • Dysmorphology and Genetic Syndromes

      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. 

    • Application of Genetic Counseling to Cancer

      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. 

    • Prenatal and Reproductive Aspects of Medical Genetics

      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. 

    • Genetic Counseling in Newborn Screening

      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. 

      • Genetic Counseling in NBS_PPT Presentation File

        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. 

    • Genetic Counseling in X-linked Dystonia Parkinsonism

      In this topic, we will learn about the natural history, molecular etiology, testing approaches, and genetic counseling strategies in X-linked Dystonia Parkinsonism. 

      • X-linked Dystonia Parkinsonism URL

        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. 

    • 2nd Long Examination

    • Academic (Term) Paper

    • 2nd Genetic Counseling Interview Analysis

      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/1DjkbNeyQI6zThPVfpkZDZ0u8n03UBAqKEwwOvfq-_0w/edit?usp=sharing