Loading ...
Global Do...
News & Politics
4
0
Try Now
Log In
Pricing
DOCTORAL EVALUATION REPORT By Sharon Fleiner Smith Kindron Student ID Number: 12978 Submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy, Individual Program - Ashkenazi Jewish Genetic Disorder Studies at Century University. To Dr. William Mayhill, Faculty Advisor CENTURY UNIVERSITY Aug 2007 Approved____________________________________ Date Approved________________________________ Comparative analysis of similar programs offered at three Universities: BOSTON UNIVERSITY, SCHOOL OF MEDICINE Boston, MA http://www.bumc.bu.edu/Dept/Content.aspx?DepartmentID=118&PageID=9603 Coursework: EMBRYOLOGY, TERATOLOGY, AND PRENATAL GENETICS CLINICAL APPLICATIONS IN HUMAN GENETICS COUNSELING TECHNIQUES AND HELPING RELATIONSHIPS ETHICAL-LEGAL ISSUES IN BIOSCIENCE GENETIC DIAGNOSIS AND LABORATORY METHODS CLINICAL GENETICS SOCIAL AND CULTURAL FOUNDATIONS CANCER GENETIC COUNSELING ADVANCED GENETIC COUNSELING HUMAN GROWTH AND DEVELOPMENT METABOLIC GENETICS / ADVANCED RISK ASSESSMENT ADVANCED TOPICS IN MEDICAL GENETICS MOUNT SINAI, SCHOOL OF MEDICINE New York, NY http://www.mssm.edu/gradschool/genetic_counseling/course.shtml Coursework: HUMAN EMBRYOLOGY MOLECULES AND CELLS EPIDEMIOLOGY AND BIOSTASTICS ETHICAL ISSUE CLINICAL RESEARCH INTRODUCTION TO THE ETHICAL RESPONSIBILITY OF GENETIC COUNSELORS INTRODUCTION TO INTERVIEWING AND COUNSELING METHODOLOGY BIOETHICS: POLICIES AND CASES MEDICAL GENETICS BEHAVIORAL MEDICINE CULTURE, ILLNESS AND COMMUNITY HEALTH ADVANCED TOPICS IN HUMAN GENETICS IMPACT OF ILLNESS ON PATIENTS AND FAMILIES HOWARD UNIVERSITY Washington, DC http://www.gs.howard.edu/gradprograms/genhumcourses.htm Coursework: INTRODUCTION TO BIOCHEMICAL GENETICS HUMAN BIOCHEMICAL AND MOLECULAR GENETICS HUMAN GENETICS CYTOGENETICS IMMUNOGENETICS INTRODUCTION TO MEDICAL GENETICS PHARMACOGENETICS GENETIC BASIS OF ENDOCRINE FUNCTIONS GENE STRUCTURE AND ACTION PRINCIPLES AND PRACTICE OF GENETIC COUNSELING ADVANCED TOPICS IN GENETIC COUNSELING SCREENING FOR GENETIC AND CONGENTIAL DISORDERS PSYCHOSOCIAL ASPECTS OF GENETIC DISORDERS ETHICAL, LEGAL, AND SOCIAL ISSUES IN HUMAN GENETICS HUMAN DYSMORPHOLOGY AND TERATOLOGY MUTATION IN HUMAN GENES MOLECULAR MEDICINE Coursework and Descriptions for a Doctor of Philosophy, Individual Program - Ashkenazi Jewish Genetic Disorder Studies at Century University: Professional Issues in Genetic Counseling Competencies: None. Course Description: Professional Issues in Genetic Counseling - This course addresses topics related to the development of a competent genetic counselor. Instructional content, combined with group discussions and student presentations, will cover the history and development of the profession, care across the lifespan, and ethical/social issues. Embryology, Teratology, and Prenatal Genetics Competencies: None. Course Description: Embryology, Teratology, and Prenatal Genetics - This course will review human embryology, the teratogenic factors leading to abnormal development, and the common indications for prenatal genetic counseling, including advanced maternal age, abnormal serum screening, ultrasound anomalies, diagnostic procedures, and prenatal complications.. Clinical Applications in Human Genetics Competencies: None. Course Description: Clinical Applications in Human Genetics - This course will introduce students to the basic concepts and principles of human genetics and their clinical applications. Topics include the chromosomal, molecular, and biochemical basis of disease, prenatal diagnosis, genetic counseling, bioinformatics, and congenital anomalies. Clinical Genetics Competencies: None. Course Description: Clinical Genetics - This course will provide information regarding etiology, features, testing, and treatment for a variety of genetic conditions. Cancer Genetic Counseling Competencies: None. Course Description: Cancer Genetic Counseling - This course introduces students to the subspecialty of cancer genetics, through topics such as the biology of cancer, current statistics and technology, inherited cancer syndromes, cancer risk assessment, testing for cancer susceptibility genes, treatment options, and ethical/legal issues. Metabolic Genetics/Advanced Risk Assessment Competencies: None. Course Description: Metabolic Genetics/Advanced Risk Assessment - This course covers screening, prevention, diagnosis, recurrence risk, treatment and prognosis for biochemical genetic disorders, as well as emphasizes mathematical techniques necessary for accurate genetic counseling, including empiric risk, probability, linkage, mapping, and Bayesian analysis. Advanced Topics in Medical Genetics Competencies: None. Course Description: Advanced Topics in Medical Genetics - Some of the topics addressed include mitochondrial disorders, immunogenetics, microdeletions and duplications, trinucleotide repeats, methylation, imprinting, and pharmacogenetics. Counseling Techniques: Helping Relationships, Skills, & Procedures Competencies: None. Course Description: Counseling Techniques: Helping Relationships, Skills, & Procedures - This course will provide an overview of diagnoses, demonstrates techniques for building a helping relationship, and treatment approaches for a wide range of disorders including depression, trauma, anxiety disorders, and problems of living. Social and Cultural Foundations Competencies: None. Course Description: Social and Cultural Foundations - This course will focus on cross-cultural aspects of clinical practice in assessment, intervention planning, and practice skills with specific populations while addressing issues of gender, race, social class, disability, and sexual orientation. The course will explore these issues from an ecological perspective with emphasis on the effect of power on individuals. Human Growth & Development Competencies: None. Course Description: Human Growth & Development - This course will provides an overview of human growth and development across the life-cycle. Course will review Piaget's work on childhood stages, Erickson's theories related to adult development, theories of language acquisition and cognitive development, and development challenges in geriatric and other special populations. Statistics Competencies: Completed - Master of Arts, Psychology, Century University (1993) Research Design & Analysis Competencies: Completed - Master of Arts, Psychology, Century University (1993) Dissertation Competencies: None. TBA. In conclusion, what will my Doctor of Philosophy, Individual Program - Ashkenazi Jewish Genetic Disorder Studies at Century University, do for me and others? My answer is simply this… First, imagine your son and daughter-in-law is expecting a baby. This is your first grandchild. You are so excited. But, your son and daughter-in-law just found out that your grandchild has a genetic disorder that is passed down through your family history, your Ashkenazi Jewish genetics. You are proud of the traditions your family passed down to you, however, your traditions never prepared you for this. The doctor gives your son and daughter-in-law the diagnosis and quickly leaves the room to see other patients. As your son and daughter-in-law walk through the crowded waiting room towards the exit, they feel overwhelmed. They have so many questions, and they don’t know who to ask. After a sleepless night, they call the doctor hoping for answers. The doctor offers them a brochure about the diagnosis, but he doesn't have time to answer all their questions. He has lots of patients to see and even more paperwork to fill out. But he does know someone who can help them begin to understand the diagnosis and what to do next. The doctor refers her to an Ashkenazi Jewish Genetic Disorder Consultant, a non-clinical consultant that specializes in Ashkenazi Jewish Genetic Disorders. An Ashkenazi Jewish Genetic Disorder Consultant, is trained to deal with people in situations like this. Ashkenazi Jewish Genetic Disorder Consultants' are NOT about cloning or lab work; their work is about people. Unlike many other health science professions, Ashkenazi Jewish Genetic Disorder Consultants' do not require a Medical Doctorate with a specialization in Genetics. Second, I learned at the age of forty-six that I was born an Ashkenazi Jew. I was relinquished for adoption from birth and suffered from various illnesses all of my life. When any practitioner asked what my family medical history was, I’d shrug my shoulders and tell them I had no clue, since I was adopted. It wasn’t until I did genealogical research, mtDNA testing, found my birth-mother, and interviewed her as to just some of my medical conditions and how they run in our family, I finally learned some of my diseases and my cancer came from a long line of Orthodox Ashkenazi Jewish diseases passed down from one generation to another. It was then that I learned that being a Jew is much more than a religion. It indeed is a medical ethnicity that the medical profession looks at very seriously when it comes to genetic diseases and heredity. Ashkenazi Jewish genetic diseases are a group of rare disorders that occur more often in people of Eastern European (Ashkenazi) Jewish heritage than in the general population. While most of these diseases are severe and life-limiting, some can be treated to reduce symptoms and prolong life. Some of these diseases can be found during a pregnancy through chorionic villus sampling (CVS) or an amniocentesis if the pregnancy is high risk for problems. This can occur if both parents are carriers of genetic diseases. Ashkenazi Jewish genetic diseases often include: Bloom syndrome - Babies with this disease are born small and remain shorter than normal as they grow. Their skin may look red, and they have more lung and ear infections than normal. Canavan Disease - This disease gradually destroys brain tissue. Cystic Fibrosis - This disease causes very thick mucus in the lungs and problems with digesting food. Familial Dysautonomia (FD) - People with this problem cannot feel pain, they sweat a lot, and they have trouble with speech and coordination. Fanconi Anemia - People with this problem do not have enough blood cells and have problems with the heart, kidneys, arms, or legs. They also are more likely to get cancer. Gaucher Disease - This disease causes a type of fat called glucocerebroside to build up in certain cells in the liver, spleen, and bone marrow. Mucolipidosis IV - This problem causes the nervous system to break down, or deteriorate, over time. Niemann-Pick Disease - This disease causes a type of fat called sphingomyelin to build up in cells of the liver, spleen, lymph nodes, and bone marrow. Tay-Sachs Disease - This disease causes a type of fat called ganglioside to build up in the cells of the brain and nervous system. Torsion Dystonia - People with this problem have ongoing spasms that twist the muscles in their arms, legs, and sometimes their body. Disease Predisposition Genes - DPG’s are disorders which result from the combination of specific genes. They may include the following: Breast Cancer (BRCA1 and BRCA2), Familial Colon Cancer, Ovarian Cancer, and Uterine Cancer. Scientists believe that certain disorders became more common among Ashkenazi Jews because of at least two processes: the "founder effect" and "genetic drift." The "founder effect" refers to the chance presence of these genes among the "founders" or ancestors who immigrated to Eastern Europe at the time of the Diaspora (70 A.D.). Prior to this time we presume that these disorders were no more common among Jews than among any other people. "Genetic drift" refers to the increase in frequency of the genes for these disorders in this group, as a result of chance. Because Jews tend to not marry outside of their faith and community, the relatively high frequency of these genes among Jews did not pass into other communities, nor was the frequency lessened by the introduction of other genes from outside the Ashkenazi Jewish community. An Ashkenazi Jewish Genetic Panel (AJGP) blood test, is a specific blood test that looks for genetic diseases that occur more often in people of Eastern European (Ashkenazi) Jewish heritage. These diseases do not just affect people of Ashkenazi Jewish heritage, but are more common in this group of people. Other racial and ethnic groups have genetic diseases that are more common in their group. An AJGP test tells parents if they have an increased chance of having a child with certain genetic diseases. Anyone who is interested in knowing his or her carrier status can ask for the test, but a doctor must order the test. It is estimated that we all carry 6 - 8 disease-producing genes which would be harmful if passed on to our children by both mother and father. Many other racial and ethnic groups have "their own" genetic disorders - disorders which are not unique to the group, but which are more common in the group. As science and technology advance, learning more about the way our DNA can affect our health and lifespan, we need a way to find out how these advances apply to us, personally. Most physicians are not experts in genetics or hereditary diseases, and do not always know how to advise concerned patients with regards to genetic issues. However, physicians can, and do, refer their patients to Genetic Consultants, who then provide patients with accurate information regarding the likelihood of occurrence of genetic disease in a family, the need for genetic screening or testing, and technologies currently available. My immediate and long-term goal is to devote a great deal of time interacting with Ashkenazi Jews to ensure that they fully understand the ways Ashkenazi Jewish genetics greatly affect our lives. With a Doctor of Philosophy, Individual Program - Ashkenazi Jewish Genetic Disorder Studies at Century University, I’ll be able to pursue a career as an Ashkenazi Jewish Genetic Disorder Consultant. In this role I can: - Explain family history and the chance that a condition will occur again. - Reduce the effects of genetic risks by educating patients and providing them with strategies for preventing disorders, as part of their family planning. - Find my own niche, for instance working with Ashkenazi Jews regarding Ashkenazi Jewish genetic disorders. Ashkenazi Jewish Genetic Disorder Consultants' are not limited to working in prenatal settings; they work with a large variety of patients and a variety of diseases. As such, Ashkenazi Jewish Genetic Disorder Consultants' work in hereditary cancer, prenatal diagnosis, pediatrics and adult genetics settings. As a Ashkenazi Jewish Genetic Disorder Consultants, I have many career options, including: - Consulting with pregnant women, couples planning a pregnancy, couples who are at risk for having a baby with a genetic condition, or women who have experienced pregnancy loss. - Consulting with parents, families, children and teenagers who have, or may have, genetic conditions such as sickle cell disease, deafness, mental retardation, or birth defects. - Consulting with people with medical and genetic conditions, or a family history of a condition such as cancer, Huntington disease, or Alzheimer disease. Ashkenazi Jewish Genetic Disorder Consultants' also work in public health settings to improve access to services and determine public policy; as researchers who explore and find solutions for unanswered questions in genetics; as consultants for pharmaceutical companies; or in private practice. As a cancer survivor myself, continually finding that some of my medical difficulties are from Ashkenazi Jewish diseases that I inherited, I personally know how frightening it is to find out that my diseases were a part of my genetic history. Frightening that I not only received the genetics for certain diseases that I cope with daily, but also just as frightening that I may have passed some of these life-threatening diseases down to my child, and possibly his children. I have a personal passion to make sure I do whatever is necessary to help educate my family and Jewish community as a whole as to what Ashkenazi Jewish Disease are and how they indeed affect our lives greatly. Consulting with Ashkenazi Jewish people is my niche, my passion, and my next career move. Respectfully submitted, Sharon Fleiner Smith Kindron SmithKindron.S@CenturyUniversity.edu 15437 East 7th Circle Aurora, CO 80011 Student # 12978
