Center for Human Genetics

P.O. Box 770
Bar Harbor, ME 04609
ph: 207-288-5815
fax: 207-288-5815

Services

 

What We Do

  • Counseling and Referral

     

    Genetics clinics are offered on a regular basis throughout the year, usually in Ellsworth, Maine.  

    Clinics are also held in conjunction with The Jackson Laboratory's annual Short Course in Medical and Experimental Mammalian Genetics held in Bar Harbor each July. 

    Referrals for counseling are made directly by individuals, families, or physicians, with full confidentiality. Participating clinic professionals include physicians, geneticists, social workers, physical therapists and others.

  • Education

     

    The staff gives talks to various academic, special-interest, or  professional groups and organizations on recent advances in medical genetics or on other subjects tailored to the participants' concerns.  

    The Center also offers community lectures on timely topics in human and/or medical genetics aimed at the general audience.

    The four-part series in September and October 1998, commemorating the 30th anniversary of the Center, covered vision problems, breast cancer, heart conditions, and diabetes. 

  • Research

     

    The Center actively engages in outreach service and research projects.

    Past major studies have concerned hemophilia, hemochromatosis, ocular albinism, Down syndrome, blue cone monochromatism, Haskell-Hardie spastic paraplegia, and retinitis pigmentosa.  

    Current efforts focus on Bardet-Biedl syndrome, glaucoma, Alstrom syndrome, and preprofessional educational programs in medical genetics. 


  • Nondiscrimination Statement: 

    The Center for Human Genetics is a nonprofit organization providing education, counseling and research in human genetics.  Services are provided to all groups and individuals irrespective of race, ethnicity, gender, sexual orientation, disability, national origin, political affiliation or religious belief.

  • Confidentiality Statement: 

    The affairs of the Center for Human Genetics (the Center), as related to patients and families receiving services, are strictly confidential.  No information concerning a patient or family member who has received counseling shall be discussed with anyone unless such discussion is in the course of official Center business in serving the needs of the client.  No information on a client shall be released without written consent from the client.

  •      

      
      All services are provided without a fee
    through the work of our volunteer staff.
     

     


 

 

 

WHAT TO EXPECT AT THE GENETICS CLINIC:  

After an appointment time is confirmed, the family history form and medical consent forms need to be signed and returned to the Center.  

These allow the consulting staff to get the correct medical diagnosis and other pertinent medical information and to determine which family members may have a particular genetic problem.  

Filling out the family history form takes inventory of the whole family and also helps point out what needs to be clarified or investigated further.

The inheritance pattern, which can usually be determined from the family pedigree, allows geneticists to assess whether the genetic trait in question is dominantly inherited, recessively inherited, sex-linked, or sporadic.

Before the clinic, the family pedigree and medical records are reviewed by Center staff. At the clinic itself, the client meets with the medical and genetic staff and may be given a physical if needed.

After a discussion among the staff, the client, and his/her family, suggestions are made for follow-up treatment or referrals, and a written report summarizing the clinic visit is sent to the client.  

At the client’s request, a copy of the report can also be sent to the family doctor. The Center keeps all records in strict confidentiality; information is not released to anyone without the client’s written permission.

The Center also has a special clinic each July, held during The Jackson Laboratory’s Short Course in Experimental Mammalian and Medical Genetics. Patients with rare or complicated disorders are often referred to this clinic for further evaluation.  

The Short Course physicians not only see our families in the summer but also may be willing to confer with and care for them under grants at their own facilities (often at greatly reduced costs to the patients).






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P.O. Box 770
Bar Harbor, ME 04609
ph: 207-288-5815
fax: 207-288-5815