MARHGN PROJECTS

1995-1999

Consumer Projects
Education Projects
Research Projects

Consumer Projects:

Donna Bennett, Parent and Founder, Thomasville, PA:
IDEAS: A National Support Group for Inverted Duplication 15 and Related Disorders Newsletter
MARHGN is supporting a quarterly newsletter to increase networking among researchers and families interested in inv dup(15). (1996-1997)

Sandra Gomberg, RN, MSN and Adele Schneider, MD, Albert Einstein Medical Center, Philadelphia, PA:
Community Outreach and Education About Anophthalmia and Microphthalmia
MARHGN is supporting the production of an educational brochure on this genetic condition, to be distributed to parents, genetic centers, pediatric ophthalmologists and oculoplastic surgeons, and other interested professionals. (1996-1997)

Elizabeth ("Ricky") Hobdell, PhD, RN, St. Christopher's Hospital for Children, Philadelphia, PA:
National Parent and Professional Menkes Conference
MARHGN provided consumer scholarships for this national consumer conference, November 7, 1996.

Elizabeth Hollomon, RN, Johns Hopkins University, and Susan Shannon, RN, Children's National Medical Center, Washington, DC:
Hemophilia Parent Preceptorship
MARHGN supported a workshop in the spring of 1995 to assist parents dealing with problems of children with hemophilia. (1994-1995)

Anne Eastman Rosenbaum, Falls Church, VA:
Klinefelter Syndrome (47,XXY): Get the Facts!
MARHGN supported the production of a videotape and information pamphlet on Klinefelter Syndrome. These resources will be for the use of parents of sons with this syndrome. The focus will be for those who have received the diagnosis prenatally or who have children up to 6 years of age postnatally. (1997-1999)

Adele Schneider, MD and Sandra Gomberg, RN, ICAN (International Children's Anophthalmia Network) and Albert Einstein Medical Center, Philadelphia, PA:
An International Conference for Parents and Professionals Dedicated to the Care of Children with Anophthalmia/Microphthalmia
MARHGN provided partial funding for a conference in the fall of 1998. ICAN provides support and education to parents and children with A/M. Since 1993, the organization has expanded worldwide with a mailing list of more than 700 families. MARHGN has also supported their newsletter, The Conformer and a second educational brochure. (1998-1999)

Adele Schneider, MD and Lisa Steinberg, MS, Albert Einstein Medical Center, Philadelphia, PA:
Large Inner City Down Syndrome Support Group
MARHGN supported production of a quarterly newsletter and membership database for this group of Philadelphia Parents of Individuals with Down Syndrome (P-PODS).This is the first Down syndrome support group to provide services to individuals in inner-city Philadelphia with particular outreach to African-American families. (1995-1996)

Ann C. M. Smith:
PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome)
MARHGN supported the newsletter, The Spectrum, a special issue of Genetworks dedicated to Smith-Magenis syndrome, and the PRISMS conference held March 13-14, 1997, 1992-1994, 1995-1996 (extended to 1997).

Theresa Wall, Parent, and Thad Kelly, MD, PhD, University of Virginia:
Share and Care Cockayne Syndrome Network
MARHGN supported a newsletter and long distance telephone use for this network of families affected by Cockayne Syndrome. (1993-1996)

Nachama Wilker, The Alliance of Genetic Support Groups, Washington, D.C.:
Partnership for Genetics Education: Consumers and Professionals in Medical Schools and Managed Care Settings
Responding to the exploding amount of information available about genetics, this project expands genetics education to medical students in training and to health care professionals working in managed care settings, by familiarizing them with the unique resources of individuals affected by genetic conditions. (1996-1997)

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Education/Genetic Counseling Projects:

Jill Baran, MS, University of Medicine and Dentistry of New Jersey, Newark:
Evaluating Outcomes of Counseling and Identification of Individuals at Risk for BRCA1 and BRCA2 Mutations in the Ashkenazi Jewish Population
This study has four goals, one, to analyze understanding of genetic counseling, two, to understand the range of emotional responses during the testing process, three, to better understand the impact of genetic counseling on the performance of health behaviors, and four, to account for individual personality factors which may impact understanding, reaction to testing and performance of health behaviors. (1997-1999)

Barbara Bernhardt, MS, Johns Hopkins University, Baltimore, MD:
Billing and Reimbursement for Genetic Counseling for Adult Onset Disorders
Advances in linking genetics and cancer have increased the demand for familial cancer risk counseling services, but expansion of these services may be limited by economics. This study is gathering information on the amount of counselor time required to provide familial cancer risk counseling and to determine which CPT and ICD-9 codes are currently used for these services. (1996-1997).

Joann Bodurtha, MD, MPH and Gayle Binder, MS, Medical College of Virginia:
Genetics Coloring Book
A genetic counseling graduate student at the Medical College of Virginia has written and illustrated a coloring book of the "Adventures of Gene," to familiarize children ages 5-9 with genetic concepts such as genes, chromosomes, and patterns of inheritance. There are two coloring books--one dealing with hemophilia and one with cystic fibrosis. MARHGN supported the distribution of these coloring books to genetics centers in the region. (1994-1995).

Cathleen Escallon and Ethylin Jabs, MD, Johns Hopkins University, Baltimore, MD:
Attitudes Toward Prenatal Diagnosis for Craniofacial Disorders
Telephone interviews were conducted with affected adults and unaffected relatives to assess their attitudes toward prenatal testing for Treacher Collins and Crouzon syndromes. A similar survey was mailed to professionals. This study demonstrated strong interest in prenatal diagnosis, particularly in parents of sporadic cases and regardless of perception of burden. (1996-1998)

Brenda Finucane, MS, Elwyn, Inc. and Chair, MARHGN Education Committee:
Special Educator Training in Genetics
MARHGN supported production and distribution of a newsletter, "Genetworks," to special education teachers to foster awareness of the genetic basis of many of the learning delays of their students. On November 17, 1995 MARHGN and Elwyn, Inc. co-hosted an educational conference on this topic in Philadelphia for 345 special education teachers. MARHGN also supported production of a booklet, "What's So Special About Genetics?" (1994-1996).

W. Allen Hogge, MD and Edward Smith, MS, Magee-Women's Hospital, Pittsburgh, PA:
Improving Access to Genetic Services Through Medical Office Staff Education
This 3-hour program, "The ABCs of Genetic Consultation and Referral," was held at four sites in rural western Pennsylvania (Erie, Washington, Altoona-Johnstown, Clarion-DuBois) with a combined attendance of approximately 200 healthcare professionals. Instruction was given in genetic principles, screening, diagnosis, and recognition of patients who may benefit from genetic referral was offered. (1995-1996)

April Justice, BS and Lisa Steinberg, MS, University of Maryland School of Medicine, Baltimore, MD:
A Computer-Based Tutorial for the Management of Abnormal Newborn Screening Results
A computer based multimedia tutorial is being developed as a guide for primary care physicians in the Mid-Atlantic region to aid in the management of abnormal screening results. The tutorial will be made available on the Internet and in hard-copy form. (1998-1999)

Julie Maley, PhD and Thad Kelly, MD, PhD, University of Virginia:
Genetics Ethics Casebook
MARHGN funded the distribution of this genetics ethics casebook to genetic counselors in the MARHGN region. Cases are arranged according to topic area as a teaching aid for genetic counseling training programs to explore ethical dilemmas in counseling. (1994-1995)

Lindsay Middelton, RN, BSN, NIH/NCHGR and Chair, MARHGN QA--Clinical Services Committee:
Consumer Expectations and Satisfaction with Genetic Services
Collaborating Institutions: National Society of Genetic Counselors, The Genetics Center (Maryland), Jefferson Medical College (Philadelphia), Medical Center of Delaware, University of Pennsylvania Hospital, West Virginia Health Sciences University, University of Medicine and Dentistry of New Jersey, Greater Baltimore Medical Center, Cooper Hospital (New Jersey), Medical College of Virginia. Patient satisfaction is an important outcome measure used in quality assurance evaluations of managed care health plans. This study examines whether meeting client expectations correlates with the level of patient satisfaction. (1995-1997)

Rona Remstein, BSN, Health Research & Education Trust, Princeton, NJ (with assistance from Marion Schwartz, RN, MSN, New Jersey State Health Department and MARHGN's Newborn Screening Committee):
"Bring Your Baby Back"--Early Discharge and Newborn Screening Video
This video in both English and Spanish language versions was initiated by MARHGN's Newborn Screening Committee as an educational tool to provide parents with information about newborn screening. It is being circulated to all medical centers in MARHGN, and to all the state health departments nationally, through additional support from CORN (The Council of Regional Networks). (1996-1997)

Wendy Rubinstein, MD, PhD, University of Pittsburgh:
Utility of Computerized Risk Assessment for Women Undergoing Breast Biopsy: Acceptance of Referral for Genetic Counseling and Predictive Value for Germline BRCA1/2 Mutations
This study will develop a computer program to instantly calculate long term breast cancer risks using two models, this "brief risk assessment" will be refined and its utility demonstrated. The project will identify high risk patients and referral to formal cancer genetic counseling. Uptake of referral and subsequent genetic testing will be measured. Additionally, there will be a focus on the psychosocial factors involved in acceptance of referral. (1998-1999)

Lorraine Suslak, MS and Tillie Young, MS, University of Medicine and Dentistry of New Jersey, Newark, NJ:
Fragile X Video Production and Evaluation
MARHGN supported the production and evaluation of a video, "Understanding Fragile X Syndrome," for families. (1992-1994)

Ming Zhu, PhD, Medical College of Virginia:
Computer Game to Stimulate Early Childhood Interest in Genetics
Using graphics developed by a Gayle Binder, MS, at the Medical College of Virginia (two coloring books, "The Adventures of Gene"--one for hemophilia and one for cystic fibrosis), Dr. Zhu has created a computer game to familiarize children ages 5-9 with genetic concepts such as genes, chromosomes, and patterns of inheritance. (1995-1997)

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Research Projects:

Barbara Bernhardt, MS, Johns Hopkins University, Baltimore, MD:
Health Care Reform and Coverage of Genetic Services within MARHGN
This study investigated how states in the Mid-Atlantic region planned to provide coverage of genetic services in the context of national health care reform and suggested ways for increasing accessibility to genetic services for individuals affected by or at risk for genetic disorders. (1994-1995)

Alan E. Donnenfeld, MD, Pennsylvania Hospital, Philadelphia:
Percutaneous Umbilical Blood Samplings vs. Amniotic Fluid Fluorescence In-situ Hybridization for Rapid Fetal Chromosome Analysis
Collaborating Institutions: Pennsylvania Hospital, West Jersey Hospital, Thomas Jefferson University Hospital, Temple University Medical Center, Hospital of The University of Pennsylvania, Lankenau Hospital, Abington Memorial Hospital, and Medical Center of Delaware, Magee Hospital. The benefits and limitations of PUBS and FISH for rapid fetal chromosome analysis included: (1) fetal blood sampling and amniotic fluid FISH may be viewed as complementary; (2) fetal blood sampling is more accurate for diagnostic purposes; (3) fetal blood sampling is more difficult to perform, especially before 20 weeks gestation, and FISH should be strongly considered in these circumstances; (4) FISH has a higher uninformative rate,a especially when there is an open fetal defect and when performed late in gestation; (5) fetal blood sampling allows more ancillary studies to be performed; (6) amniocentesis is easier to perform and requires less sophisticated equipment and personnel. (1994-1995)

Betsy Gettig, MS and John J. Mulvihill, MD, University of Pittsburgh:
Genetics Disease Study Group
The Genetic Diseases Study Group attempts to replicate in genetics the successful cancer and heart disease interinstitutional cooperative clinical trial groups. Approximately 75 genetics centers in the mid-Atlantic region have been surveyed, and a database developed at the University of Pittsburgh on ongoing clinical trials within the region. The group is now working on a protocol for investigators wishing to go forward with a collaborative effort. The Genetic Diseases Study Group has developed a database of 33 clinical trials ongoing in the mid-Atlantic region. A generic protocol for use by investigators in an interinstitutional cooperative clinical trial is planned. Possible research areas include outcome of common fetal anomalies or variants discovered by ultrasonography; dietary management of Smith-Lemli-Opitz syndrome; genetic mapping and natural history studies of anophthalmia/microphthalmia, and of Jeune syndrome; and clinical history of erythrocytic enzymopathies. (1995-1996)

Betsy Gettig, MS and John Mulvihill, MD, University of Pittsburgh:
Longitudinal Data Analysis
All existing MARHGN data from 1981-1993 was collated in a uniform format to facilitate needs assessment planning for the region and to develop a source of data for research projects. Changes made over time to the reporting elements made this task more difficult; not all data fields were complete. There were also problems with data submitted in the late 1980s. Data however from 1990 on proved robust enough to establish some trends in the growth and provision of genetics services. (1994-1995)

Ann Jewell, MS, Carilion Center for Women and Children, Roanoke Community Hospital, Roanoke, VA:
Analysis of Recurrence Risks of Trisomies 13 and 18
The purpose of this two-year study was to establish accurate empiric recurrence risk figures for trisomies 13 and 18. Although many medical centers quote a 1% recurrence risk based on trisomy 21, it was not certain that the mechanisms responsible for meiotic nondisjunction in trisomies 13, 18 and 21 were the same, or that the factors responsible for the empiric 1% recurrence risk for trisomy 21 also existed for trisomies 13 and 18. The second year of this study succeeded in doubling the sample from 61 cases to 133. With a sample size of 1086, 13 had a karyotype consistent with a "true recurrence," and of these, 10 of the mothers were of advanced maternal age. At the conclusion of the MARHGN-funded portion of this study, the investigator awaited data from further laboratories before finalizing her conclusions. (1993-1995)

Cheryl Reid, MD, and Betsy Gettig, MS, University of Pittsburgh:
Patient Outcomes in Medical Genetics: Differential Outcomes Relative to Clinical Genetics and Genetic Counseling Interventions
This project is examining functional, psychological and other patient-centered outcomes in a prospective cohort of patients affected by several specific genetic disorders, in relation to the complexity of genetic services received. Instruments will be developed to assess general outcomes, resource utilization, quality of life, and functional outcomes. Multi-variate statistical analysis of the data will be performed to detect trends and variations among patients with different levels of genetic intervention. (1997-1999)

Nina Scribanu, MD, Georgetown University and Deborah Driscoll, MD, Children's Hospital of Philadelphia:
Molecular and High Resolution Cytogenetic Analysis of the Chromosome 22q11.2 Locus in a Population of Patients with Isolated Conotruncal Heart Defects
The purpose of this study was to determine if the above mentioned monosomy is responsible for isolated heart malformations. FISH studies using commercially available probes for the DiGeorge critical region were performed at Georgetown University. Patients negative for the deletion with these cosmids were studied further with probes developed in the laboratory of Dr. Deborah Driscoll of Children's Hospital of Philadelphia. This study of the relationship between congenital heart defects and deletions on chromosome 22 suggested that there is no association between tetralogy and chromosome 22 deletions (1994-1995)

Frank Shafer, MD, St. Christopher's Hospital for Children, MCP Hahnemann School of Medicine, Philadelphia:
Regional Clinical Care Protocols to Improve Health Care Services to Children and Adolescents with Sickle Cell Disease
A working group consisting of regional specialists and consumer advocates is meeting to develop consensus practice guidelines regarding the care of infants, children and adolescents with sickle cell disease. Regional agreement regarding these comprehensive care guidelines would improve and standardize treatment provided within the managed care environment. MARHGN is supporting the meetings, a project coordinator and materials for the completion of the guidelines. (1998-1999)

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Last updated: June 15, 1999